1. E. Evangelou, D. M. Maraganore, G. Annesi, L. Brighina, A. Brice, A. Elbaz, C. Ferrarese, G. M. Hadjigeorgiou, R. Krueger, J. C. Lambert, S. Lesage, K. Markopoulou, G. D. Mellick, B. Meeus, N. L. Pedersen, A. Quattrone, C. Van Broeckhoven, M. Sharma, P. A. Silburn, E. K. Tan, K. Wirdefeldt, and J. P. Ioannidis. Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: Large-scale collaborative study. Am J Med Genet B Neuropsychiatr Genet, 153B(1):220-228, 2010. [WWW]



2. K. P. Figueroa, N. A. Minassian, G. Stevanin, M. Waters, V. Garibyan, S. Forlani, A. Strzelczyk, K. Burk, A. Brice, A. Durr, D. M. Papazian, and S. M. Pulst. KCNC3: Phenotype, mutations, channel biophysics - a study of 260 familial ataxia patients. Hum Mutat, 31((2)):191-6., 2010. Note: Journal article. [WWW]



3. A. Janer, A. Werner, J. Takahashi-Fujigasaki, A. Daret, H. Fujigasaki, K. Takada, C. Duyckaerts, A. Brice, A. Dejean, and A. Sittler. SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7. Hum Mol Genet, 19(1):181-95, 2010. Note: Journal ArticleEngland. [WWW]



4. S. Lesage, E. Patin, C. Condroyer, A. L. Leutenegger, E. Lohmann, N. Giladi, A. Bar-Shira, S. Belarbi, N. Hecham, P. Pollak, A. M. Ouvrard-Hernandez, S. Bardien, J. Carr, T. Benhassine, H. Tomiyama, C. Pirkevi, T. Hamadouche, C. Cazeneuve, A. N. Basak, N. Hattori, A. Durr, M. Tazir, A. Orr-Urtreger, L. Quintana-Murci, and A. Brice. Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. Hum Mol Genet, 2010. Note: For the French Parkinson's Disease Genetics Study GroupJournal article. [WWW]



5. A. Al-Chalabi, A. Durr, N. W. Wood, M. H. Parkinson, A. Camuzat, J. S. Hulot, K. E. Morrison, A. Renton, S. D. Sussmuth, B. G. Landwehrmeyer, A. Ludolph, Y. Agid, A. Brice, P. N. Leigh, and G. Bensimon. Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy. PLoS ONE, 4(9):e7114, 2009. Note: NNIPPS Genetic Study GroupMedical Research Council/United KingdomClinical TrialJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



6. M. Anheim, C. Lagier-Tourenne, G. Stevanin, M. Fleury, A. Durr, I. J. Namer, P. Denora, A. Brice, J. L. Mandel, M. Koenig, and C. Tranchant. SPG11 spastic paraplegia : A new cause of juvenile parkinsonism. J Neurol, 2009. Note: Journal article. [WWW]



7. M. Anheim, B. Monga, M. Fleury, P. Charles, C. Barbot, M. Salih, J. P. Delaunoy, M. Fritsch, L. Arning, M. Synofzik, L. Schols, J. Sequeiros, C. Goizet, C. Marelli, I. Le Ber, J. Koht, J. Gazulla, J. De Bleecker, M. Mukhtar, N. Drouot, L. Ali-Pacha, T. Benhassine, M. Chbicheb, A. M'Zahem, A. Hamri, B. Chabrol, J. Pouget, R. Murphy, M. Watanabe, P. Coutinho, M. Tazir, A. Durr, A. Brice, C. Tranchant, and M. Koenig. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain, 132(Pt 10):2688-98, 2009. Note: Journal articlea journal of neurology. [WWW]



8. L. Benajiba, I. Le Ber, A. Camuzat, M. Lacoste, C. Thomas-Anterion, P. Couratier, S. Legallic, F. Salachas, D. Hannequin, M. Decousus, L. Lacomblez, E. Guedj, V. Golfier, W. Camu, B. Dubois, D. Campion, V. Meininger, and A. Brice. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol, 65(4):470-3, 2009. Note: French Clinical and Genetic Research Network on Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration with Motoneuron DiseaseJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



9. A. Boukhris, G. Stevanin, I. Feki, P. Denora, N. Elleuch, M. I. Miladi, C. Goizet, J. Truchetto, S. Belal, A. Brice, and C. Mhiri. Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity. Clin Genet, 75(6):527-36, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tDenmark. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, Brain/pathology, Child, Consanguinity, Female, Genes, Recessive, *Genetic Heterogeneity, Humans, Male, Middle Aged, Mutation, *Phenotype, Spastic Paraplegia, Hereditary/*epidemiology/*genetics/pathology, Sural Nerve/pathology, Tunisia/epidemiology.



10. C. Cazeneuve, C. San, S. A. Ibrahim, M. M. Mukhtar, M. M. Kheir, E. Leguern, A. Brice, and M. A. Salih. A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease. Neurogenetics, 2009. Note: Journal article. [WWW]



11. F. Clot, D. Grabli, C. Cazeneuve, E. Roze, P. Castelnau, B. Chabrol, P. Landrieu, K. Nguyen, G. Ponsot, M. Abada, D. Doummar, P. Damier, R. Gil, S. Thobois, A. J. Ward, M. Hutchinson, A. Toutain, F. Picard, A. Camuzat, E. Fedirko, C. San, D. Bouteiller, E. LeGuern, A. Durr, M. Vidailhet, and A. Brice. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain, 132(Pt 7):1753-63, 2009. Note: French Dystonia NetworkJournal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW]



12. P. S. Denora, M. Muglia, C. Casali, J. Truchetto, G. Silvestri, D. Messina, A. Boukrhis, A. Magariello, A. Modoni, M. Masciullo, A. Malandrini, M. Morelli, M. F. de Leva, M. Villanova, E. Giugni, L. Citrigno, T. Rizza, A. Federico, A. Pierallini, A. Quattrone, A. Filla, A. Brice, G. Stevanin, and F. M. Santorelli. Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. J Neurol Sci, 277(1-2):22-5, 2009. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tNetherlands. [WWW] Keyword(s): Adolescent, Adult, Corpus Callosum/*pathology, Female, Haplotypes, Humans, Italy, Magnetic Resonance Imaging, Male, Nerve Fibers, Myelinated/pathology, Paraplegia/*genetics/*pathology, Pedigree, Point Mutation, Proteins/*genetics, Young Adult.



13. P. S. Denora, D. Schlesinger, C. Casali, F. Kok, A. Tessa, A. Boukhris, H. Azzedine, M. T. Dotti, C. Bruno, J. Truchetto, R. Biancheri, E. Fedirko, M. Di Rocco, C. Bueno, A. Malandrini, R. Battini, E. Sickl, M. F. de Leva, O. Boespflug-Tanguy, G. Silvestri, A. Simonati, E. Said, A. Ferbert, C. Criscuolo, K. Heinimann, A. Modoni, P. Weber, S. Palmeri, M. Plasilova, F. Pauri, D. Cassandrini, C. Battisti, A. Pini, M. Tosetti, E. Hauser, M. Masciullo, R. Di Fabio, F. Piccolo, E. Denis, G. Cioni, R. Massa, E. Della Giustina, O. Calabrese, M. A. Melone, G. De Michele, A. Federico, E. Bertini, A. Durr, K. Brockmann, M. S. van der Knaap, M. Zatz, A. Filla, A. Brice, G. Stevanin, and F. M. Santorelli. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat, 30(3):E500-19, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Algeria, Base Sequence, Brazil, Corpus Callosum/*abnormalities, DNA Mutational Analysis, Family Health, Female, *Gene Deletion, Gene Frequency, Genes, Recessive, Genetic Screening, Genotype, Haplotypes, Humans, Male, Middle Aged, Morocco, *Mutation, Pedigree, Portugal, Proteins/*genetics, Spastic Paraplegia, Hereditary/diagnosis/ethnology/*genetics, Young Adult.



14. C. Depienne, D. Bouteiller, B. Keren, E. Cheuret, K. Poirier, O. Trouillard, B. Benyahia, C. Quelin, W. Carpentier, S. Julia, A. Afenjar, A. Gautier, F. Rivier, S. Meyer, P. Berquin, M. Helias, I. Py, S. Rivera, N. Bahi-Buisson, I. Gourfinkel-An, C. Cazeneuve, M. Ruberg, A. Brice, R. Nabbout, and E. Leguern. Erratum. PLoS Genet, 5(4), 2009. Note: Journal ArticleUnited States. [WWW]



15. C. Depienne, D. Bouteiller, B. Keren, E. Cheuret, K. Poirier, O. Trouillard, B. Benyahia, C. Quelin, W. Carpentier, S. Julia, A. Afenjar, A. Gautier, F. Rivier, S. Meyer, P. Berquin, M. Helias, I. Py, S. Rivera, N. Bahi-Buisson, I. Gourfinkel-An, C. Cazeneuve, M. Ruberg, A. Brice, R. Nabbout, and E. Leguern. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet, 5(2):e1000381, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



16. C. Depienne, D. Moreno-De-Luca, D. Heron, D. Bouteiller, A. Gennetier, R. Delorme, P. Chaste, J. P. Siffroi, S. Chantot-Bastaraud, B. Benyahia, O. Trouillard, G. Nygren, S. Kopp, M. Johansson, M. Rastam, L. Burglen, E. Leguern, A. Verloes, M. Leboyer, A. Brice, C. Gillberg, and C. Betancur. Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders. Biol Psychiatry, 66(4):349-359, 2009. Note: Journal article. [WWW]



17. D. Doummar, F. Clot, M. Vidailhet, A. Afenjar, A. Durr, A. Brice, C. Mignot, A. Guet, T. B. de Villemeur, and D. Rodriguez. Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene. Mov Disord, 24(6):943-945, 2009. Note: Journal articleofficial journal of the Movement Disorder Society. [WWW]



18. M. Fournier, J. Vitte, J. Garrigue, D. Langui, J. P. Dullin, F. Saurini, N. Hanoun, F. Perez-Diaz, F. Cornilleau, C. Joubert, H. Ardila-Osorio, S. Traver, R. Duchateau, C. Goujet-Zalc, K. Paleologou, H. A. Lashuel, C. Haass, C. Duyckaerts, C. Cohen-Salmon, P. J. Kahle, M. Hamon, A. Brice, and O. Corti. Parkin deficiency delays motor decline and disease manifestation in a mouse model of synucleinopathy. PLoS ONE, 4(8):e6629, 2009. Note: Journal ArticleUnited States. [WWW]



19. M. Y. Frederic, F. Clot, A. Blanchard, C. M. Dhaenens, G. Lesca, L. Cif, A. Durr, M. Vidailhet, B. Sablonniere, A. Calender, M. Martinez, N. Molinari, A. Brice, M. Claustres, S. Tuffery-Giraud, and G. Collod-Beroud. The p.Asp216His TOR1A allele effect is not found in the French population. Mov Disord, 24(6):919-921, 2009. Note: Journal articleofficial journal of the Movement Disorder Society. [WWW]



20. C. Goizet, A. Boukhris, A. Durr, C. Beetz, J. Truchetto, C. Tesson, M. Tsaousidou, S. Forlani, L. Guyant-Marechal, B. Fontaine, J. Guimaraes, B. Isidor, O. Chazouilleres, D. Wendum, D. Grid, F. Chevy, P. F. Chinnery, P. Coutinho, J. P. Azulay, I. Feki, F. Mochel, C. Wolf, C. Mhiri, A. Crosby, A. Brice, and G. Stevanin. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain, 132(Pt 6):1589-600, 2009. Note: Journal ArticleMulticenter StudyResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adolescent, Adult, Aged, Animals, Base Sequence, Brain/pathology, Codon, Nonsense/*genetics, Female, Genes, Recessive, Genetic Variation, Heterozygote, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense/*genetics, Pedigree, Point Mutation, Spastic Paraplegia, Hereditary/*genetics/pathology, Species Specificity, Steroid Hydroxylases/*genetics, Young Adult.



21. C. Goizet, A. Boukhris, D. Maltete, L. Guyant-Marechal, J. Truchetto, E. Mundwiller, S. Hanein, P. Jonveaux, F. Roelens, J. Loureiro, E. Godet, S. Forlani, J. Melki, M. Auer-Grumbach, J. C. Fernandez, P. Martin-Hardy, I. Sibon, G. Sole, I. Orignac, C. Mhiri, P. Coutinho, A. Durr, A. Brice, and G. Stevanin. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Neurology, 73(14):1111-9, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



22. C. Goizet, A. Boukhris, E. Mundwiller, C. Tallaksen, S. Forlani, A. Toutain, N. Carriere, V. Paquis, C. Depienne, A. Durr, G. Stevanin, and A. Brice. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat, 30(2):E376-85, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Base Sequence, Child, Child, Preschool, DNA Mutational Analysis, Female, Gene Frequency, Humans, Kinesin/*genetics, Male, Middle Aged, Molecular Sequence Data, Mutation/genetics, Pedigree, Spastic Paraplegia, Hereditary/*genetics.



23. M. C. Hannibal, E. K. Ruzzo, L. R. Miller, B. Betz, J. G. Buchan, D. M. Knutzen, K. Barnett, M. L. Landsverk, A. Brice, E. LeGuern, H. M. Bedford, B. B. Worrall, S. Lovitt, S. H. Appel, E. Andermann, T. D. Bird, and P. F. Chance. SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. Neurology, 72(20):1755-9, 2009. Note: NS38181/NS/NINDS NIH HHS/United StatesJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited States. [WWW]



24. P. Ibanez, S. Lesage, S. Janin, E. Lohmann, F. Durif, A. Destee, A. M. Bonnet, C. Brefel-Courbon, S. Heath, D. Zelenika, Y. Agid, A. Durr, and A. Brice. Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. Arch Neurol, 66(1):102-8, 2009. Note: French Parkinson's Disease Genetics Study GroupJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Aged, Aged, 80 and over, Brain Chemistry/*genetics, Chromosome Breakage, DNA Mutational Analysis, DNA Repeat Expansion/genetics, Female, Gene Dosage/genetics, Genes, Dominant/*genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Genotype, Haplotypes/genetics, Humans, Male, Microsatellite Repeats/genetics, Middle Aged, Oligonucleotide Array Sequence Analysis, Parkinsonian Disorders/*genetics/*metabolism/physiopathology, Polymorphism, Single Nucleotide/genetics, alpha-Synuclein/*genetics.



25. I. Le Ber, A. Camuzat, E. Berger, D. Hannequin, A. Laquerriere, V. Golfier, D. Seilhean, G. Viennet, P. Couratier, P. Verpillat, S. Heath, W. Camu, O. Martinaud, L. Lacomblez, M. Vercelletto, F. Salachas, F. Sellal, M. Didic, C. Thomas-Anterion, M. Puel, B. F. Michel, C. Besse, C. Duyckaerts, V. Meininger, D. Campion, B. Dubois, and A. Brice. Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. Neurology, 72(19):1669-76, 2009. Note: French Research Network on FTD/FTD-MNDJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



26. S. Lesage, C. Condroyer, A. Lannuzel, E. Lohmann, A. Troiano, F. Tison, P. Damier, S. Thobois, A. M. Ouvrard-Hernandez, S. Rivaud-Pechoux, C. Brefel-Courbon, A. Destee, C. Tranchant, M. Romana, L. Leclere, A. Durr, and A. Brice. Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease. J Med Genet, 46(7):458-64, 2009. Note: French Parkinson's Disease Genetics Study GroupLetterResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adolescent, Adult, African Continental Ancestry Group/genetics, Aged, Aged, 80 and over, Analysis of Variance, Chi-Square Distribution, DNA Mutational Analysis/methods, European Continental Ancestry Group/genetics, Female, Gene Frequency, Humans, Male, Middle Aged, Mutation, Parkinsonian Disorders/diagnosis/*genetics, Pedigree, Protein-Serine-Threonine Kinases/*genetics.



27. E. Lohmann, L. Leclere, F. De Anna, S. Lesage, B. Dubois, Y. Agid, A. Durr, and A. Brice. A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations. Parkinsonism Relat Disord, 15(4):273-6, 2009. Note: French Parkinson's Disease Genetics Study GroupJournal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Aged, DNA Mutational Analysis/methods, *Family Health, Female, France, *Genetic Predisposition to Disease, Glycine/genetics, Humans, Male, Middle Aged, Mutation/*genetics, Neuropsychological Tests, *Olfaction Disorders/etiology/genetics/psychology, *Parkinson Disease/complications/genetics/psychology, Protein-Serine-Threonine Kinases/*genetics, Serine/genetics.



28. E. Lohmann, S. Thobois, S. Lesage, E. Broussolle, S. T. du Montcel, M. J. Ribeiro, P. Remy, A. Pelissolo, B. Dubois, L. Mallet, P. Pollak, Y. Agid, and A. Brice. A multidisciplinary study of patients with early-onset PD with and without parkin mutations. Neurology, 72(2):110-6, 2009. Note: French Parkinson's Disease Genetics Study GroupNS41723-01A1/NS/NINDS NIH HHS/United StatesJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Age of Onset, Aged, Antiparkinson Agents/administration & dosage/adverse effects, Cognition Disorders/diagnosis/epidemiology/*genetics, Comorbidity, DNA Mutational Analysis, Depressive Disorder/diagnosis/epidemiology/*genetics, Disease Progression, Drug Resistance/genetics, Female, Genetic Predisposition to Disease/*genetics, Genetic Screening, Genotype, Humans, Male, Middle Aged, Parkinson Disease/epidemiology/*genetics/psychology, Severity of Illness Index, Ubiquitin-Protein Ligases/*genetics.



29. D. Lorenz, S. Klebe, G. Stevanin, S. Thier, A. Nebel, J. Feingold, H. Frederiksen, E. Denis, K. Christensen, S. Schreiber, A. Brice, G. Deuschl, and A. Durr. Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients. Eur J Hum Genet, 17(6):766-73, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglandEjhg. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, Denmark, Essential Tremor/ethnology/*genetics, European Continental Ancestry Group/genetics, Female, France, Genetic Variation, Genotype, Germany, Humans, Linkage (Genetics), Male, Middle Aged, Pedigree, Receptors, Dopamine D3/*genetics.



30. F. Mochel, F. Sedel, A. Vanderver, U. F. Engelke, J. Barritault, B. Z. Yang, B. Kulkarni, D. R. Adams, F. Clot, J. H. Ding, C. R. Kaneski, F. W. Verheijen, B. W. Smits, F. Seguin, A. Brice, M. T. Vanier, M. Huizing, R. Schiffmann, A. Durr, and R. A. Wevers. Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). Brain, 132(Pt 3):801-9, 2009. Note: 5R24 HD050846/HD/NICHD NIH HHS/United StatesP30HD40677/HD/NICHD NIH HHS/United StatesJournal ArticleMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, N.I.H., IntramuralResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, Atrophy/cerebrospinal fluid, Cells, Cultured, Cerebellar Ataxia/*cerebrospinal fluid/pathology, Cerebellum/pathology, Child, Child, Preschool, Cohort Studies, Female, Humans, Infant, Magnetic Resonance Imaging/methods, Magnetic Resonance Spectroscopy/methods, Male, Middle Aged, N-Acetylneuraminic Acid/*cerebrospinal fluid, Transferrin/cerebrospinal fluid.



31. M. P. Muriel, A. Dauphin, M. Namekawa, A. Gervais, A. Brice, and M. Ruberg. Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum. J Neurochem, 110(5):1607-16, 2009. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Cell Line, Cytoplasmic Vesicles/*enzymology/genetics/ultrastructure, Dynamins/genetics/metabolism, Endoplasmic Reticulum/*enzymology/genetics/ultrastructure, GTP Phosphohydrolases/genetics/*metabolism/physiology, Humans, Membrane Lipids/genetics/*metabolism, Microtubules/*enzymology/genetics/ultrastructure, Protein Transport/physiology, Spastic Paraplegia, Hereditary/enzymology/genetics.



32. C. Pirkevi, S. Lesage, C. Condroyer, H. Tomiyama, N. Hattori, S. Ertan, A. Brice, and A. N. Basak. A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype. Neurogenetics, 10(3):271-3, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Aged, Aged, 80 and over, Asian Continental Ancestry Group/*genetics, DNA Mutational Analysis, Female, Genetics, Population, Haplotypes, *Heterozygote, Humans, Japan, Middle Aged, Molecular Sequence Data, Parkinson Disease/genetics, *Point Mutation, Protein-Serine-Threonine Kinases/*genetics, Turkey.



33. N. Rawal, O. Corti, P. Sacchetti, H. Ardilla-Osorio, B. Sehat, A. Brice, and E. Arenas. Parkin protects dopaminergic neurons from excessive Wnt/beta-catenin signaling. Biochem Biophys Res Commun, 388(3):473-8, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



34. M. J. Ribeiro, S. Thobois, E. Lohmann, S. T. du Montcel, S. Lesage, A. Pelissolo, B. Dubois, L. Mallet, P. Pollak, Y. Agid, E. Broussolle, A. Brice, and P. Remy. A Multitracer Dopaminergic PET Study of Young-Onset Parkinsonian Patients With and Without Parkin Gene Mutations. J Nucl Med, 2009. Note: The French Parkinson's Disease Genetics Study GroupJournal articleofficial publication, Society of Nuclear Medicine. [WWW]



35. A. Rovelet-Lecrux, M. Lecourtois, C. Thomas-Anterion, I. Le Ber, A. Brice, T. Frebourg, D. Hannequin, and D. Campion. Partial deletion of the MAPT gene: a novel mechanism of FTDP-17. Hum Mutat, 30(4):E591-602, 2009. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Alternative Splicing, Blotting, Western, Cell Line, Tumor, DNA Mutational Analysis, Fatal Outcome, *Gene Deletion, Humans, Immunoprecipitation, Male, Microscopy, Confocal, Microtubule-Associated Proteins/immunology/metabolism, Microtubules/metabolism, Protein Binding, Protein Isoforms/genetics/metabolism, Tauopathies/*genetics/metabolism/pathology, Transfection, tau Proteins/*genetics/metabolism.



36. E. Sidransky, M. A. Nalls, J. O. Aasly, J. Aharon-Peretz, G. Annesi, E. R. Barbosa, A. Bar-Shira, D. Berg, J. Bras, A. Brice, C. M. Chen, L. N. Clark, C. Condroyer, E. V. De Marco, A. Durr, M. J. Eblan, S. Fahn, M. J. Farrer, H. C. Fung, Z. Gan-Or, T. Gasser, R. Gershoni-Baruch, N. Giladi, A. Griffith, T. Gurevich, C. Januario, P. Kropp, A. E. Lang, G. J. Lee-Chen, S. Lesage, K. Marder, I. F. Mata, A. Mirelman, J. Mitsui, I. Mizuta, G. Nicoletti, C. Oliveira, R. Ottman, A. Orr-Urtreger, L. V. Pereira, A. Quattrone, E. Rogaeva, A. Rolfs, H. Rosenbaum, R. Rozenberg, A. Samii, T. Samaddar, C. Schulte, M. Sharma, A. Singleton, M. Spitz, E. K. Tan, N. Tayebi, T. Toda, A. R. Troiano, S. Tsuji, M. Wittstock, T. G. Wolfsberg, Y. R. Wu, C. P. Zabetian, Y. Zhao, and S. G. Ziegler. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med, 361(17):1651-61, 2009. Note: NS050487/NS/NINDS NIH HHS/United StatesNS060113/NS/NINDS NIH HHS/United StatesNS40256/NS/NINDS NIH HHS/United StatesComparative StudyJournal ArticleMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, N.I.H., IntramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.United States. [WWW] Keyword(s): Aged, Case-Control Studies, Genotype, Glucosylceramidase/*genetics, Humans, Jews/genetics, Logistic Models, Middle Aged, Multivariate Analysis, *Mutation, Odds Ratio, Parkinson Disease/*genetics.



37. C. A. da Costa, C. Sunyach, E. Giaime, A. West, O. Corti, A. Brice, S. Safe, P. M. Abou-Sleiman, N. W. Wood, H. Takahashi, M. S. Goldberg, J. Shen, and F. Checler. Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. Nat Cell Biol, 11(11):1370-5, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adolescent, *Genes, Recessive, *Genes, p53, Humans, *Mutation, Parkinson Disease/*genetics, Promoter Regions, Genetic, Transcription, Genetic/*physiology, Ubiquitin-Protein Ligases/*physiology.



38. M. Anheim, D. Chaigne, M. Fleury, F. M. Santorelli, J. De Seze, A. Durr, A. Brice, M. Koenig, and C. Tranchant. [Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature]. Rev Neurol (Paris), 164(4):363-8, 2008. Note: English AbstractJournal ArticleFrance. [WWW]



39. A. Boukhris, I. Feki, E. Denis, M. I. Miladi, A. Brice, C. Mhiri, and G. Stevanin. Spastic paraplegia 15: linkage and clinical description of three Tunisian families. Mov Disord, 23(3):429-33, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited Statesofficial journal of the Movement Disorder Society. [WWW]



40. A. Boukhris, G. Stevanin, I. Feki, E. Denis, N. Elleuch, M. I. Miladi, J. Truchetto, P. Denora, S. Belal, C. Mhiri, and A. Brice. Hereditary Spastic Paraplegia With Mental Impairment and Thin Corpus Callosum in Tunisia: SPG11, SPG15, and Further Genetic Heterogeneity. Arch Neurol, 65(3):393-402, 2008. Note: Journal article. [WWW]



41. A. Camuzat, M. Romana, A. Durr, J. Feingold, A. Brice, M. Ruberg, and A. Lannuzel. The PSP-associated MAPT H1 subhaplotype in Guadeloupean atypical parkinsonism. Mov Disord, 23(16):2384-91, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited Statesofficial journal of the Movement Disorder Society. [WWW] Keyword(s): Aged, Case-Control Studies, Chi-Square Distribution, European Continental Ancestry Group, Female, Gene Frequency, Genotype, Guadeloupe/epidemiology, Humans, Linkage Disequilibrium, Male, Middle Aged, Parkinsonian Disorders/complications/*genetics, Polymorphism, Single Nucleotide/*genetics, Supranuclear Palsy, Progressive/complications/*genetics, tau Proteins/*classification/*genetics.



42. J. Chapuis, D. Hannequin, F. Pasquier, P. Bentham, A. Brice, I. Leber, T. Frebourg, J. F. Deleuze, E. Cousin, U. Thaker, P. Amouyel, D. Mann, C. Lendon, D. Campion, and J. C. Lambert. Association study of the GAB2 gene with the risk of developing Alzheimer's disease. Neurobiol Dis, 30(1):103-6, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adaptor Proteins, Signal Transducing/*genetics, Aged, Aged, 80 and over, Alzheimer Disease/*genetics/pathology, Apolipoprotein E4/genetics, Brain/pathology, Case-Control Studies, Chi-Square Distribution, Cross-Cultural Comparison, Female, Gene Frequency, *Genetic Predisposition to Disease, Genotype, Humans, Male, Polymorphism, Genetic/*genetics, Risk.



43. P. S. Denora, M. Muglia, C. Casali, J. Truchetto, G. Silvestri, D. Messina, A. Boukrhis, A. Magariello, A. Modoni, M. Masciullo, A. Malandrini, M. Morelli, M. F. de Leva, M. Villanova, E. Giugni, L. Citrigno, T. Rizza, A. Federico, A. Pierallini, A. Quattrone, A. Filla, A. Brice, G. Stevanin, and F. M. Santorelli. Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. J Neurol Sci, 2008. Note: Journal article. [WWW]



44. P. S. Denora, D. Schlesinger, C. Casali, F. Kok, A. Tessa, A. Boukhris, H. Azzedine, M. T. Dotti, C. Bruno, J. Truchetto, R. Biancheri, E. Fedirko, M. Di Rocco, C. Bueno, A. Malandrini, R. Battini, E. Sickl, M. F. de Leva, O. Boespflug-Tanguy, G. Silvestri, A. Simonati, E. Said, A. Ferbert, C. Criscuolo, K. Heinimann, A. Modoni, P. Weber, S. Palmeri, M. Plasilova, F. Pauri, D. Cassandrini, C. Battisti, A. Pini, M. Tosetti, E. Hauser, M. Masciullo, R. D. Fabio, F. Piccolo, E. Denis, G. Cioni, R. Massa, E. D. Giustina, O. Calabrese, M. A. Melone, G. De Michele, A. Federico, E. Bertini, A. Durr, K. Brockmann, M. S. van der Knaap, M. Zatz, A. Filla, A. Brice, G. Stevanin, and F. M. Santorelli. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat, 2008. Note: Journal article. [WWW]



45. A. K. Erichsen, G. Stevanin, P. Denora, A. Brice, and C. M. Tallaksen. SPG11--the most common type of recessive spastic paraplegia in Norway?. Acta Neurol Scand Suppl, 188:46-50, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tDenmark. [WWW]



46. M. Y. Frederic, F. Clot, L. Cif, A. Blanchard, A. Durr, I. Vuillaume, G. Lesca, A. Kreisler, C. Davin, T. Besnard, F. Rousset, D. Thorel, C. Saquet, D. Mechin, L. Ozelius, Y. Agid, B. Barroso, B. Chabrol, V. Chan, M. Clanet, C. Coubes, A. Destee, K. Nguyen, C. Vial, M. Vidailhet, J. Xie, B. Sablonniere, A. Calender, A. Brice, A. Roubertie, P. Coubes, M. Claustres, S. Tuffery-Giraud, and G. Collod-Beroud. Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?. Neurogenetics, 9(2):143-50, 2008. Note: Journal ArticleUnited States. [WWW]



47. C. Goizet, A. Boukhris, E. Mundwiller, C. Tallaksen, S. Forlani, A. Toutain, N. Carriere, V. Paquis, C. Depienne, A. Durr, G. Stevanin, and A. Brice. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat, 2008. Note: Journal article. [WWW]



48. E. Guedj, G. Allali, C. Goetz, I. Le Ber, M. Volteau, L. Lacomblez, P. Vera, A. Hitzel, D. Hannequin, M. Decousus, C. Thomas-Anterion, C. Magne, M. Vercelletto, A. M. Bernard, M. Didic, J. A. Lotterie, M. Puel, A. Brice, M. O. Habert, and B. Dubois. Frontal Assessment Battery is a marker of dorsolateral and medial frontal functions: A SPECT study in frontotemporal dementia. J Neurol Sci, 273(1-2):84-7, 2008. Note: French research network on FTD/FTD-MNDJournal ArticleResearch Support, Non-U.S. Gov'tNetherlands. [WWW]



49. S. Hanein, E. Martin, A. Boukhris, P. Byrne, C. Goizet, A. Hamri, A. Benomar, A. Lossos, P. Denora, J. Fernandez, N. Elleuch, S. Forlani, A. Durr, I. Feki, M. Hutchinson, F. M. Santorelli, C. Mhiri, A. Brice, and G. Stevanin. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet, 82(4):992-1002, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



50. D. G. Healy, M. Falchi, S. S. O'Sullivan, V. Bonifati, A. Durr, S. Bressman, A. Brice, J. Aasly, C. P. Zabetian, S. Goldwurm, J. J. Ferreira, E. Tolosa, D. M. Kay, C. Klein, D. R. Williams, C. Marras, A. E. Lang, Z. K. Wszolek, J. Berciano, A. H. Schapira, T. Lynch, K. P. Bhatia, T. Gasser, A. J. Lees, and N. W. Wood. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol, 7(7):583-90, 2008. Note: International LRRK2 ConsortiumG0400000/United Kingdom Medical Research CouncilK08 NS044138/NS/United States NINDSNS R01-36960/NS/United States NINDSP01AG017216/AG/United States NIAP50NS40256/NS/United States NINDSR01AG015866/AG/United States NIAJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.England. [WWW]



51. C. Lautier, S. Goldwurm, A. Durr, B. Giovannone, W. G. Tsiaras, G. Pezzoli, A. Brice, and R. J. Smith. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. Am J Hum Genet, 82(4):822-33, 2008. Note: DK43038/DK/United States NIDDKJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited States. [WWW]



52. I. Le Ber, A. Camuzat, D. Hannequin, F. Pasquier, E. Guedj, A. Rovelet-Lecrux, V. Hahn-Barma, J. van der Zee, F. Clot, S. Bakchine, M. Puel, M. Ghanim, L. Lacomblez, J. Mikol, V. Deramecourt, P. Lejeune, V. de la Sayette, S. Belliard, M. Vercelletto, C. Meyrignac, C. Van Broeckhoven, J. C. Lambert, P. Verpillat, D. Campion, M. O. Habert, B. Dubois, and A. Brice. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain, 131(Pt 3):732-46, 2008. Note: French research network on FTD/FTD-MNDJournal ArticleMulticenter StudyResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adult, Age of Onset, Aged, Aged, 80 and over, Aphasia, Primary Progressive/genetics, Brain/pathology/physiopathology, Brain Mapping/methods, Cognition Disorders/etiology, Dementia/*genetics/pathology/psychology, Disease Progression, Epidemiologic Methods, Female, Heterozygote, Humans, Intercellular Signaling Peptides and Proteins/*genetics, Magnetic Resonance Imaging, Male, Middle Aged, Motor Neuron Disease/genetics, *Mutation, Neuropsychological Tests, Phenotype.



53. S. Lesage, E. Lohmann, F. Tison, F. Durif, A. Durr, and A. Brice. Gene symbol: PARK2. Disease: Parkinsonism, juvenile, autosomal recessive. Hum Genet, 123(1):114, 2008. Note: Journal ArticleGermany. [WWW] Keyword(s): Amino Acid Substitution, Codon, *Genes, Recessive, Humans, Molecular Sequence Data, Parkinsonian Disorders/*genetics, Ubiquitin-Protein Ligases/chemistry/*genetics.



54. S. Lesage, E. Lohmann, F. Tison, F. Durif, A. Durr, and A. Brice. Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls. J Med Genet, 45(1):43-6, 2008. Note: French Parkinson's Disease Genetics Study GroupNS41723-01A1/NS/NINDS NIH HHS/United StatesLetterResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Alleles, Case-Control Studies, DNA Mutational Analysis, European Continental Ancestry Group, Exons/genetics, Female, France, Gene Frequency, Genetic Predisposition to Disease, *Genetic Variation, *Heterozygote, Humans, Male, Middle Aged, Parkinson Disease/*genetics/physiopathology, Point Mutation, Ubiquitin-Protein Ligases/*genetics.



55. E. Lohmann, L. Leclere, F. De Anna, S. Lesage, B. Dubois, Y. Agid, A. Durr, and A. Brice. A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations. Parkinsonism Relat Disord, 2008. Note: The French Parkinson's Disease Genetics Study GroupJournal article. [WWW]



56. E. Lohmann, M. L. Welter, V. Fraix, P. Krack, S. Lesage, S. Laine, M. L. Tanguy, J. L. Houeto, V. Mesnage, P. Pollak, A. Durr, Y. Agid, and A. Brice. Are parkin patients particularly suited for deep-brain stimulation?. Mov Disord, 23(5):740-3, 2008. Note: French Parkinson's Disease Genetics study groupNS41723-01A1/NS/United States NINDSJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited Statesofficial journal of the Movement Disorder Society. [WWW] Keyword(s): Adult, Aged, Antiparkinson Agents/adverse effects/therapeutic use, DNA Mutational Analysis, *Deep Brain Stimulation, Dyskinesia, Drug-Induced, Female, Follow-Up Studies, Genetic Screening, Heterozygote, Homozygote, Humans, Levodopa/adverse effects/therapeutic use, Male, Middle Aged, Mutation, Parkinsonian Disorders/*genetics/*therapy, Treatment Outcome, Ubiquitin-Protein Ligases/*genetics.



57. D. Lorenz, S. Klebe, G. Stevanin, S. Thier, A. Nebel, J. Feingold, H. Frederiksen, E. Denis, K. Christensen, S. Schreiber, A. Brice, G. Deuschl, and A. Durr. Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients. Eur J Hum Genet, 2008. Note: Journal articleEjhg. [WWW]



58. P. Ribai, C. Depienne, E. Fedirko, A. C. Jothy, C. Viveweger, V. Hahn-Barma, A. Brice, and A. Durr. Mental deficiency in three families with SPG4 spastic paraplegia. Eur J Hum Genet, 16(1):97-104, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglandEjhg. [WWW] Keyword(s): Adenosine Triphosphatases/*genetics, Adult, Amino Acid Substitution, Female, Genes, Dominant, Haplotypes, Humans, Male, Mental Retardation/complications/*genetics, Middle Aged, *Mutation, Mutation, Missense, Pedigree, Phenotype, Point Mutation, Spastic Paraplegia,, Hereditary/complications/*genetics/physiopathology/psychology.



59. A. Rovelet-Lecrux, V. Deramecourt, S. Legallic, C. A. Maurage, I. Le Ber, A. Brice, J. C. Lambert, T. Frebourg, D. Hannequin, F. Pasquier, and D. Campion. Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease. Neurobiol Dis, 31(1):41-5, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



60. E. Roze, E. Apartis, F. Clot, N. Dorison, S. Thobois, L. Guyant-Marechal, C. Tranchant, P. Damier, D. Doummar, N. Bahi-Buisson, N. Andre-Obadia, D. Maltete, A. Echaniz-Laguna, Y. Pereon, Y. Beaugendre, S. Dupont, T. De Greslan, C. P. Jedynak, G. Ponsot, J. C. Dussaule, A. Brice, A. Durr, and M. Vidailhet. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. Neurology, 70(13):1010-6, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Aged, Brain/metabolism/physiopathology, Child, Child, Preschool, DNA Mutational Analysis, Disease Progression, Dystonia/*diagnosis/*genetics/physiopathology, Electroencephalography, Female, Genetic Markers/genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Genotype, Humans, Male, Middle Aged, Muscle, Skeletal/metabolism/physiopathology, Mutation/genetics, Myoclonus/*diagnosis/*genetics/physiopathology, Prospective Studies, Reflex, Abnormal/genetics, Remission, Spontaneous, Sarcoglycans/*genetics.



61. G. Stevanin, H. Azzedine, P. Denora, A. Boukhris, M. Tazir, A. Lossos, A. L. Rosa, I. Lerer, A. Hamri, P. Alegria, J. Loureiro, M. Tada, D. Hannequin, M. Anheim, C. Goizet, V. Gonzalez-Martinez, I. Le Ber, S. Forlani, K. Iwabuchi, V. Meiner, G. Uyanik, A. K. Erichsen, I. Feki, F. Pasquier, S. Belarbi, V. T. Cruz, C. Depienne, J. Truchetto, G. Garrigues, C. Tallaksen, C. Tranchant, M. Nishizawa, J. Vale, P. Coutinho, F. M. Santorelli, C. Mhiri, A. Brice, and A. Durr. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain, 131(Pt 3):772-84, 2008. Note: SPATAX consortiumJournal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW]



62. G. Stevanin and A. Brice. Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). Cerebellum, 7(2):170-8, 2008. Note: Journal ArticleNorway. [WWW]



63. G. Stevanin, M. Ruberg, and A. Brice. Recent advances in the genetics of spastic paraplegias. Curr Neurol Neurosci Rep, 8(3):198-210, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



64. C. Van Humbeeck, E. Waelkens, O. Corti, A. Brice, and W. Vandenberghe. Parkin occurs in a stable, non-covalent, approximately 110-kDa complex in brain. Eur J Neurosci, 27(2):284-93, 2008. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tFrance. [WWW] Keyword(s): Animals, Brain/*metabolism, Brain Chemistry/*physiology, CHO Cells, COS Cells, Cercopithecus aethiops, Cricetinae, Cricetulus, Humans, Mice, Mice, Inbred C57BL, Mice, Knockout, Ubiquitin-Protein Ligases/*analysis/*biosynthesis/genetics.



65. S. T. du Montcel, P. Charles, P. Ribai, C. Goizet, A. Le Bayon, P. Labauge, L. Guyant-Marechal, S. Forlani, C. Jauffret, N. Vandenberghe, K. N'Guyen, I. Le Ber, D. Devos, C. M. Vincitorio, M. U. Manto, F. Tison, D. Hannequin, M. Ruberg, A. Brice, and A. Durr. Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment. Brain, 131(Pt 5):1352-61, 2008. Note: Journal ArticleMulticenter StudyResearch Support, Non-U.S. Gov'tValidation StudiesEnglanda journal of neurology. [WWW] Keyword(s): Adult, Aged, Cerebellar Ataxia/*physiopathology/psychology, Female, Humans, Male, Middle Aged, Neuropsychological Tests, Paraplegia/*physiopathology/psychology, Psychometrics, Psychomotor Disorders/*etiology, Quality of Life, *Severity of Illness Index.



66. Y. Baba, M. C. Baker, I. Le Ber, A. Brice, L. Maeck, J. Kohlhase, M. Yasuda, G. Stoppe, O. Bugiani, A. D. Sperfeld, Y. Tsuboi, R. J. Uitti, M. J. Farrer, B. Ghetti, M. L. Hutton, and Z. K. Wszolek. Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. J Neural Transm, 114(7):947-950, 2007. [WWW]



67. N. Bouslam, A. Bouhouche, A. Benomar, S. Hanein, S. Klebe, H. Azzedine, S. Di Giandomenico, A. Boland-Auge, F. M. Santorelli, A. Durr, A. Brice, M. Yahyaoui, and G. Stevanin. A novel locus for autosomal recessive spastic ataxia on chromosome 17p. Hum Genet, 121(3-4):413-20, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tGermany. [WWW] Keyword(s): Adult, Age of Onset, Cerebellar Ataxia/*genetics, Chromosome Mapping, *Chromosomes, Human, Pair 17, Consanguinity, Female, *Genes, Recessive, Haplotypes, Humans, Male, Microsatellite Repeats, Pedigree, Spastic Paraplegia, Hereditary/*genetics.



68. C. Cagnoli, A. Brussino, E. Di Gregorio, A. Brusco, G. Stevanin, A. Durr, and A. Brice. The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients. Mov Disord, 22(5):752-3, 2007. Note: LetterResearch Support, Non-U.S. Gov'tUnited Statesofficial journal of the Movement Disorder Society. [WWW] Keyword(s): Adolescent, Adult, Aged, *Chromosome Aberrations, Chromosome Mapping, *Chromosomes, Human, Pair 16, *DNA Mutational Analysis, Europe, European Continental Ancestry Group/genetics, Female, *Genes, Dominant, *Genetics, Population, Guanine Nucleotide Exchange Factors/*genetics, Humans, Male, Middle Aged, Spectrin/*genetics, Spinocerebellar Ataxias/diagnosis/*genetics.



69. P. Charles, A. Camuzat, N. Benammar, F. Sellal, A. Destee, A. M. Bonnet, S. Lesage, I. Le Ber, G. Stevanin, A. Durr, and A. Brice. Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?. Neurology, 2007. Note: French Parkinson's Disease Genetics Study Group*Journal article. [WWW]



70. L. N. Clark, E. Haamer, H. Mejia-Santana, J. Harris, S. Lesage, A. Durr, S. J. Bs, K. Hedrich, E. D. Louis, L. J. Cote, H. Andrews, S. Fahn, C. Waters, B. Ford, S. Frucht, W. Scott, C. Klein, A. Brice, H. Roomere, R. Ottman, and K. Marder. Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene. Mov Disord, 22(7):932-7, 2007. Note: Ns32527/ns/nindsNs36630/ns/nindsNs41723-01a1/ns/nindsRr00645/rr/ncrrJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited Statesofficial journal of the Movement Disorder Society. [WWW] Keyword(s): Family Health, Gene Expression Profiling/*methods, Genetics, Population, Genotype, Humans, *Mutation, Oligonucleotide Array Sequence Analysis/*methods, Parkinson Disease/epidemiology/*genetics, Reproducibility of Results, Retrospective Studies, Ubiquitin-Protein Ligases/*genetics.



71. C. Depienne, E. Fedirko, J. M. Faucheux, S. Forlani, B. Bricka, C. Goizet, S. Lesourd, G. Stevanin, M. Ruberg, A. Durr, and A. Brice. A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP. Neurogenetics, 8(3):231-233, 2007. Note: Journal article. [WWW]



72. C. Depienne, E. Fedirko, S. Forlani, C. Cazeneuve, P. Ribai, I. Feki, C. Tallaksen, K. Nguyen, B. Stankoff, M. Ruberg, G. Stevanin, A. Durr, and A. Brice. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet, 44(4):281-4, 2007. Note: Comparative StudyLetterResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adenosine Triphosphatases/deficiency/*genetics, Adolescent, Adult, Age of Onset, Aged, Child, Child, Preschool, DNA Mutational Analysis, Exons/*genetics, Female, France/epidemiology, Genetic Heterogeneity, Genetic Screening, Humans, Infant, Male, Middle Aged, Point Mutation, Polymerase Chain Reaction/methods, Portugal/epidemiology, Spain/epidemiology, Spastic Paraplegia, Hereditary/epidemiology/*genetics.



73. C. Depienne, D. Heron, C. Betancur, B. Benyahia, O. Trouillard, D. Bouteiller, A. Verloes, E. LeGuern, M. Leboyer, and A. Brice. Autism, language delay and mental retardation in a patient with 7q11 duplication. J Med Genet, 44(7):452-8, 2007. Note: LetterResearch Support, Non-U.S. Gov'tEngland. [WWW]



74. C. Depienne, G. Stevanin, A. Brice, and A. Durr. Hereditary spastic paraplegias: an update. Curr Opin Neurol, 20(6):674-80, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tReviewEngland. [WWW] Keyword(s): Adenosine Triphosphatases/genetics, DNA Mutational Analysis/methods, Diagnosis, Differential, Genetic Predisposition to Disease/*genetics, Genetic Screening/methods, Humans, Inheritance Patterns/genetics, Mutation/*genetics, Proteins/genetics, Spastic Paraplegia, Hereditary/*diagnosis/*genetics/physiopathology.



75. N. Elleuch, N. Bouslam, S. Hanein, A. Lossos, A. Hamri, S. Klebe, V. Meiner, N. Birouk, I. Lerer, D. Grid, D. Bacq, M. Tazir, D. Zelenika, Z. Argov, A. Durr, M. Yahyaoui, A. Benomar, A. Brice, and G. Stevanin. Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. Neurogenetics, 8(4):307-15., 2007. Note: Journal article. [WWW]



76. I. Feki, M. I. Miladi, N. Elleuch, A. Boukhris, G. Stevanin, A. Brice, and C. Mhiri. [Familial spastic paraplegia with severe amyotrophy of the hands. (Silver syndrome?)]. Rev Neurol (Paris), 163(4):476-9, 2007. Note: Case ReportsEnglish AbstractJournal ArticleFrance. [WWW] Keyword(s): Adult, Brachial Plexus Neuritis/genetics/*pathology, Electric Stimulation, Electromyography, Evoked Potentials, Somatosensory/physiology, Female, Foot/pathology, Hand/*pathology, Humans, Magnetic Resonance Imaging, Male, Neurologic Examination, Paraplegia/genetics/*pathology, Pedigree, Syndrome.



77. N. Gaillard, G. Castelnovo, A. Brice, and P. Labauge. [Writer's cramp secondary to spinocerebellar ataxia type 7]. Rev Neurol (Paris), 163(5):589-91, 2007. Note: Case ReportsEnglish AbstractJournal ArticleFrance. [WWW] Keyword(s): Adult, Botulinum Toxin Type A/therapeutic use, Dystonic Disorders/*etiology, Humans, Male, Nerve Tissue Proteins/genetics, Neuromuscular Agents/therapeutic use, Spinocerebellar Ataxias/*complications/drug therapy/genetics.



78. I. Gourfinkel-An, C. Duyckaerts, A. Camuzat, C. Meyrignac, P. Sonderegger, M. Baulac, and A. Brice. Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene. Neurology, 69(1):79-83, 2007. Note: Case ReportsJournal ArticleUnited States. [WWW] Keyword(s): Adult, *Amino Acid Substitution, Dementia/epidemiology/*genetics, Exons/genetics, Female, France/ethnology, Frontal Lobe/pathology/*physiopathology, Genotype, Humans, Inclusion Bodies, Male, *Mutation, Missense, Myoclonic Epilepsies, Progressive/epidemiology/*genetics, Neuropeptides/*genetics, Pedigree, Phenotype, *Point Mutation, Serpins/*genetics, Switzerland.



79. A. Grunewald, G. J. Breedveld, K. Lohmann-Hedrich, C. F. Rohe, I. R. Konig, J. Hagenah, N. Vanacore, G. Meco, A. Antonini, S. Goldwurm, S. Lesage, A. Durr, F. Binkofski, H. Siebner, A. Munchau, A. Brice, B. A. Oostra, C. Klein, and V. Bonifati. Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis. Neurogenetics, 8(2):103-9, 2007. Note: Journal ArticleUnited States. [WWW]



80. E. Guedj, I. Le Ber, L. Lacomblez, B. Dubois, P. Verpillat, M. Didic, F. Salachas, P. Vera, D. Hannequin, J. A. Lotterie, M. Puel, M. Decousus, C. Thomas-Anterion, C. Magne, M. Vercelletto, A. M. Bernard, V. Golfier, J. Pasquier, B. F. Michel, I. Namer, F. Sellal, J. Bochet, M. Volteau, A. Brice, V. Meininger, and M. O. Habert. Brain spect perfusion of frontotemporal dementia associated with motor neuron disease. Neurology, 69(5):488-90, 2007. Note: French Research Network on FTD/FTD-MNDJournal ArticleMulticenter StudyResearch Support, N.I.H., ExtramuralUnited States. [WWW] Keyword(s): Aged, Brain/blood supply/*physiopathology/*radionuclide imaging, Brain Mapping, Cerebral Arteries/physiopathology/radionuclide imaging, Cerebrovascular Circulation/physiology, Comorbidity, Dementia/complications/*physiopathology/*radionuclide imaging, Female, Humans, Image Processing, Computer-Assisted, Male, Middle Aged, Motor Neuron Disease/complications/*physiopathology/*radionuclide imaging, Predictive Value of Tests, Tomography, Emission-Computed, Single-Photon.



81. L. Guyant-Marechal, A. Rovelet-Lecrux, L. Goumidi, E. Cousin, D. Hannequin, G. Raux, C. Penet, S. Ricard, S. Mace, P. Amouyel, J. F. Deleuze, T. Frebourg, A. Brice, J. C. Lambert, and D. Campion. Variations in the APP gene promoter region and risk of Alzheimer disease. Neurology, 68(9):684-7, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Aged, Alzheimer Disease/*epidemiology/*genetics, Amyloid beta-Protein Precursor/*genetics, DNA Mutational Analysis/methods, Female, France/epidemiology, Genetic Predisposition to Disease/epidemiology/genetics, Genetic Screening/*methods, Heterozygote, Humans, Incidence, Male, Middle Aged, Polymorphism, Single Nucleotide/*genetics, Promoter Regions (Genetics), Receptors, Cell Surface/*genetics, Risk Assessment/*methods, Risk Factors, Tumor Markers, Biological/genetics, Variation (Genetics)/*genetics.



82. S. Hanein, A. Durr, P. Ribai, S. Forlani, A. L. Leutenegger, I. Nelson, M. C. Babron, N. Elleuch, C. Depienne, C. Charon, A. Brice, and G. Stevanin. A novel locus for autosomal dominant ``uncomplicated'' hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. Hum Genet, 122(3-4):261-73, 2007. Note: Journal article. [WWW]



83. D. P. Huynh, D. T. Nguyen, J. B. Pulst-Korenberg, A. Brice, and S. M. Pulst. Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death. Exp Neurol, 203(2):531-41, 2007. Note: K01-ns047548-01a1/ns/nindsP50 ag16570/ag/niaP50 ns038367-06a26073/ns/nindsP50ns038367/ns/nindsR01 ns033123-08/ns/nindsR01-ns33124/ns/nindsR21 ns048083-01a2/ns/nindsR21 ns048083-02/ns/nindsR21ns048083/ns/nindsJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Animals, Blotting, Western, Cell Death/physiology, Cell Line, Cell Survival, Cytoplasm/metabolism, Fluorescent Antibody Technique, Humans, Immunoprecipitation, Mice, Nerve Tissue Proteins/*genetics/*physiology, Purkinje Cells/metabolism, Transfection, Trypan Blue, Ubiquitin-Protein Ligases/*metabolism/physiology.



84. M. Joch, A. R. Ase, C. X. Chen, P. A. MacDonald, M. Kontogiannea, A. T. Corera, A. Brice, P. Seguela, and E. A. Fon. Parkin-mediated monoubiquitination of the PDZ protein PICK1 regulates the activity of acid-sensing ion channels. Mol Biol Cell, 18(8):3105-18, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



85. S. Klebe, A. Durr, N. Bouslam, D. Grid, C. Paternotte, C. Depienne, S. Hanein, A. Bouhouche, N. Elleuch, H. Azzedine, S. Poea-Guyon, S. Forlani, E. Denis, C. Charon, J. Hazan, A. Brice, and G. Stevanin. Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description. Am J Med Genet B Neuropsychiatr Genet, 144(7):854-61., 2007. Note: Journal article. [WWW]



86. S. Klebe, L. Faivre, S. Forlani, C. Dussert, A. Tourbah, A. Brice, G. Stevanin, and A. Durr. Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. Arch Neurol, 64(6):913-4, 2007. Note: Case ReportsLetterResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adenine, Amino Acid Substitution, Cysteine, Guanine, Humans, Magnetic Resonance Imaging, Male, *Mutation, Missense, Protein Kinase C/*genetics, Spinocerebellar Ataxias/classification/diagnosis/*genetics, Tyrosine.



87. S. Klebe, A. Lacour, A. Durr, T. Stojkovic, C. Depienne, S. Forlani, S. Poea-Guyon, I. Vuillaume, B. Sablonniere, P. Vermersch, A. Brice, and G. Stevanin. NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe. Neurogenetics, 8(2):155-7, 2007. Note: Journal ArticleUnited States. [WWW]



88. Morwena Latouche, Christelle Lasbleiz, Elodie Martin, Veronique Monnier, Thomas Debeir, Annick Mouatt-Prigent, Marie-Paule Muriel, Lydie Morel, Merle Ruberg, Alexis Brice, Giovanni Stevanin, and Herve Tricoire. A Conditional Pan-Neuronal Drosophila Model of Spinocerebellar Ataxia 7 with a Reversible Adult Phenotype Suitable for Identifying Modifier Genes. J Neurosci, 27(10):2483-2492, 2007. [WWW] [doi:10.1523/jneurosci.5453-06.2007]



89. M. Latouche, C. Lasbleiz, E. Martin, V. Monnier, T. Debeir, A. Mouatt-Prigent, M. P. Muriel, L. Morel, M. Ruberg, A. Brice, G. Stevanin, and H. Tricoire. A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes. J Neurosci, 27(10):2483-92, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited Statesthe official journal of the Society for Neuroscience. [WWW] Keyword(s): Animals, Animals, Genetically Modified, Cell Death, Cells, Cultured, *Disease Models, Animal, *Drosophila, Dyskinesias/genetics, Glutamine, Humans, Intranuclear Inclusion Bodies/ultrastructure, Longevity, Male, Mutation, Nerve Tissue Proteins/genetics/metabolism, Neurons/metabolism, Peptides/genetics, Phenotype, Rats, Spinocerebellar Ataxias/*genetics/metabolism/pathology/physiopathology, Threonine.



90. I. Le Ber, A. Brice, and A. Durr. Predominant dystonia with marked cerebellar atrophy: A rare phenotype in familial dystonia - Reply from the authors. Neurology, 68(24):2157-2158, 2007. [WWW]



91. I. Le Ber, A. Camuzat, J. van der Zee, D. Hannequin, F. Pasquier, I. Gijselinck, D. Campion, M. Puel, A. Laquerriere, T. De Pooter, M. Van den Broeck, B. Dubois, F. Sellal, L. Lacomblez, M. Vercelletto, C. Thomas-Anterion, B. F. Michel, V. Golfier, M. Didic, F. Salachas, C. Duyckaerts, J. C. Lambert, M. Cruts, P. Verpillat, C. Van Broeckhoven, and A. Brice. PGRN gene mutations in both sporadic and familial frontotemporal dementia. Neurology, 68(12):A351-A351, 2007. Note: Suppl. 1. [WWW]



92. I. Le Ber, O. Dubourg, J. F. Benoist, C. Jardel, F. Mochel, M. Koenig, A. Brice, A. Lombes, and A. Durr. Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. Neurology, 68(4):295-297, 2007. [WWW]



93. I. Le Ber, J. van der Zee, D. Hannequin, I. Gijselinck, D. Campion, M. Puel, A. Laquerriere, T. De Pooter, A. Camuzat, M. Van den Broeck, B. Dubois, F. Sellal, L. Lacomblez, M. Vercelletto, C. Thomas-Anterion, B. F. Michel, V. Golfier, M. Didic, F. Salachas, C. Duyckaerts, M. Cruts, P. Verpillat, C. Van Broeckhoven, and A. Brice. Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum Mutat, 28(9):846-55, 2007. Note: French Research Network on FTD/FTD-MNDJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



94. S. Lesage, A. Durr, and A. Brice. LRRK2: a link between familial and sporadic Parkinson's disease?. Pathol Biol (Paris), 55(2):107-10, 2007. Note: EditorialResearch Support, Non-U.S. Gov'tFrance. [WWW] Keyword(s): Adult, Age of Onset, Aged, Aged, 80 and over, Amino Acid Substitution, Animals, Ethnic Groups/genetics, Female, Gene Frequency, Genes, Dominant, Humans, Male, Mice, Middle Aged, Mutation, Missense, Parkinson Disease/epidemiology/*genetics, Phenotype, Point Mutation, Protein Structure, Tertiary, Protein-Serine-Threonine Kinases/chemistry/genetics/*physiology.



95. S. Lesage, S. Janin, E. Lohmann, A. L. Leutenegger, L. Leclere, F. Viallet, P. Pollak, F. Durif, S. Thobois, V. Layet, M. Vidailhet, Y. Agid, A. Durr, A. Brice, A. M. Bonnet, M. Borg, E. Broussolle, P. Damier, A. Destee, M. Martinez, C. Penet, O. Rasco, F. Tison, C. Tranchan, and M. Verin. LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans. Arch Neurol, 64(3):425-30, 2007. Note: French Parkinson's Disease Genetics Study GroupNs41723-01a1/ns/nindsComparative StudyJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, DNA Mutational Analysis/methods, Europe, Exons/*genetics, Female, Histidine/genetics, Humans, Male, Middle Aged, *Mutation, Parkinson Disease/*genetics, Protein-Serine-Threonine Kinases/*genetics, Serine/genetics, Threonine/genetics, Tyrosine/genetics.



96. S. Lesage, L. Leclere, E. Lohmann, M. Borg, M. Ruberg, A. Durr, and A. Brice. Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease. Neurodegener Dis, 4(2-3):195-8, 2007. Note: French Parkinson's Disease Genetics Study GroupNs41723-01a1/ns/nindsJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tSwitzerland. [WWW]



97. S. Lesage, P. Magali, E. Lohmann, L. Lacomblez, H. Teive, S. Janin, P. Y. Cousin, A. Durr, and A. Brice. Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism. Hum Mutat, 28(1):27-32, 2007. Note: French Parkinson Disease Genetics Study GroupNs41723-01a1/ns/nindsJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited States. [WWW]



98. E. Lohmann, S. Thobois, S. Laine, S. Tezenas, E. Broussolle, P. Pollak, L. Mallet, B. Dubois, Y. Agid, and A. Brice. A detailed clinical study of early-onset Parkinson patients. Mov Disord, 22:S132-S133, 2007. Note: Suppl. 16. [WWW]



99. M. Namekawa, M. P. Muriel, A. Janer, M. Latouche, A. Dauphin, T. Debeir, E. Martin, C. Duyckaerts, A. Prigent, C. Depienne, A. Sittler, A. Brice, and M. Ruberg. Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. Mol Cell Neurosci, 35(1):1-13, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Cell Line, Cytoplasmic Vesicles/*enzymology/ultrastructure, Endoplasmic Reticulum/*enzymology/ultrastructure, Epitopes, GTP Phosphohydrolases/*genetics/*metabolism, Golgi Apparatus/*enzymology/ultrastructure, Humans, Kidney/cytology, Microscopy, Electron, Motor Cortex/cytology, Motor Neurons/*enzymology, Paraplegia/genetics/metabolism, Point Mutation, Protein Transport/physiology, Spinal Cord/cytology.



100. P. Ribai, C. Depienne, E. Fedirko, A. C. Jothy, C. Viveweger, V. Capra, E. Merello, A. Brice, and A. Durr. Mental retardation is associated to spastic paraplegia in 15 patients with SPG4 mutations. Eur J Hum Genet, pp sous-presse, 2007.



101. P. Ribai, K. Nguyen, V. Hahn-Barma, I. Gourfinkel-An, M. Vidailhet, A. Legout, C. Dode, A. Brice, and A. Durr. Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. Arch Neurol, 64(6):813-9, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Atrophy, Brain/pathology, Child, Cognition Disorders/*etiology, Fathers, Female, Humans, Huntington Disease/*diagnosis/genetics/*psychology, Male, Mental Disorders/*etiology/psychology, Mothers, Movement Disorders/etiology, Retrospective Studies, Time Factors, Trinucleotide Repeats.



102. P. Ribai, F. Pousset, M. L. Tanguy, S. Rivaud-Pechoux, I. Le Ber, F. Gasparini, P. Charles, A. S. Beraud, M. Schmitt, M. Koenig, A. Mallet, A. Brice, and A. Durr. Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Arch Neurol, 64(4):558-564, 2007. [WWW]



103. M. Schupbach, E. Lohmann, M. Anheim, S. Lesage, V. Czernecki, S. Yaici, Y. Worbe, P. Charles, M. L. Welter, P. Pollak, A. Durr, Y. Agid, and A. Brice. Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations. Mov Disord, 22(1):119-22, 2007. Note: Clinical TrialComparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited Statesofficial journal of the Movement Disorder Society. [WWW] Keyword(s): Adult, Aged, Deep Brain Stimulation/*methods, Female, Glycine/genetics, Humans, Male, Middle Aged, *Mutation, *Parkinsonian Disorders/genetics/pathology/therapy, Protein-Serine-Threonine Kinases/*genetics, Retrospective Studies, Serine/genetics, Subthalamic Nucleus/physiology/*surgery, Threonine/genetics.



104. G. Stevanin and A. Brice. Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). Cerebellum, pp 1-9, 2007. Note: Journal article. [WWW]



105. G. Stevanin, C. Paternotte, P. Coutinho, S. Klebe, N. Elleuch, J. L. Loureiro, E. Denis, V. T. Cruz, A. Durr, J. F. Prud'homme, J. Weissenbach, A. Brice, and J. Hazan. A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. Neurology, 68(21):1837-40, 2007. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Brain Stem/abnormalities/metabolism/physiopathology, Cerebellum/abnormalities/metabolism/physiopathology, Chromosome Mapping, Chromosomes, Human, Pair 14/*genetics, Consanguinity, DNA Mutational Analysis, Female, GTP Phosphohydrolases/genetics, Genetic Markers/genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Genotype, Humans, Inheritance Patterns/genetics, Male, Mental Retardation/genetics/metabolism/physiopathology, Mutation/*genetics, Nervous System Malformations/genetics/metabolism/physiopathology, Pedigree, Spastic Paraplegia, Hereditary/*genetics/metabolism/physiopathology.



106. G. Stevanin, F. M. Santorelli, H. Azzedine, P. Coutinho, J. Chomilier, P. S. Denora, E. Martin, A. M. Ouvrard-Hernandez, A. Tessa, N. Bouslam, A. Lossos, P. Charles, J. L. Loureiro, N. Elleuch, C. Confavreux, V. T. Cruz, M. Ruberg, E. Leguern, D. Grid, M. Tazir, B. Fontaine, A. Filla, E. Bertini, A. Durr, and A. Brice. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet, 39(3):366-372, 2007. Note: Journal article. [WWW]



107. G. Stevanin, F. Santorelli, H. Azzedine, P. Coutinho, P. Denora, E. Martin, A. Lossos, B. Fontaine, A. Filla, E. Bertini, A. Durr, and A. Brice. Mutations in the SPG11 gene are a major cause of spastic paraplegia with thin corpus callosum. Neurology, 68(12):A201-A201, 2007. Note: Suppl. 1. [WWW]



108. J. van der Zee, I. Le Ber, S. Engelborghs, S. Maurer-Stroh, I. Gijselinck, N. Brouwers, K. Sleegers, J. J. Martin, T. De Pooter, K. Peeters, M. Mattheijssens, M. Van den Broeck, J. Schymkowitz, F. Rousseau, P. De Deyn, M. Cruts, A. Brice, and C. Van Broeckhoven. Genetic contribution of PGRN, MAPT, VCP, and CHMP2B to the etiology of frontotemporal dementia. Neurology, 68(12):A201-A201, 2007. Note: Suppl. 1. [WWW]



109. J. van der Zee, I. Le Ber, S. Maurer-Stroh, S. Engelborghs, I. Gijselinck, A. Camuzat, N. Brouwers, R. Vandenberghe, K. Sleegers, D. Hannequin, B. Dermaut, J. Schymkowitz, D. Campion, P. Santens, J. J. Martin, L. Lacomblez, T. De Pooter, K. Peeters, M. Mattheijssens, M. Vercelletto, M. Van den Broeck, M. Cruts, P. P. De Deyn, F. Rousseau, A. Brice, and C. Van Broeckhoven. Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. Hum Mutat, 28(4):416, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Case-Control Studies, Conserved Sequence, DNA Mutational Analysis, Dementia/*genetics/metabolism/pathology, Female, Humans, Intercellular Signaling Peptides and, Proteins/biosynthesis/deficiency/*genetics/metabolism, Male, Microsatellite Repeats, Middle Aged, Molecular Sequence Data, *Mutation, Missense, Protein Conformation, Protein Folding, Protein Structure, Tertiary.



110. H. Azzedine, N. Ravise, C. Verny, A. Gabreels-Festen, M. Lammens, D. Grid, J. M. Vallat, G. Durosier, J. Senderek, S. Nouioua, T. Hamadouche, A. Bouhouche, A. Guilbot, C. Stendel, M. Ruberg, A. Brice, N. Birouk, O. Dubourg, M. Tazir, and E. LeGuern. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology, 67(4):602-6, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Charcot-Marie-Tooth Disease/*epidemiology/*genetics, Chromosome Mapping, DNA Mutational Analysis, Female, France/epidemiology, Genetic Predisposition to Disease/epidemiology/genetics, Humans, Incidence, Male, Mutation, Pedigree, Risk Assessment/*methods, Risk Factors, Spinal Curvatures/*epidemiology/*genetics, Spine/*abnormalities.



111. A. Brice. [What can we learn from genes responsible for familial forms of Parkinson's disease?]. Bull Acad Natl Med, 190(2):485-96;, 2006. Note: English AbstractJournal ArticleReviewNetherlands. [WWW] Keyword(s): Humans, Parkinson Disease/*genetics, Protein-Serine-Threonine Kinases/*genetics, Ubiquitin-Protein Ligases/*genetics, alpha-Synuclein/*genetics.



112. C. Cagnoli, G. Stevanin, C. Michielotto, G. Gerbino Promis, A. Brussino, P. Pappi, A. Durr, E. Dragone, M. Viemont, C. Gellera, A. Brice, N. Migone, and A. Brusco. Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay. J Mol Diagn, 8(1):128-32, 2006. Note: Comparative StudyEvaluation StudiesJournal ArticleResearch Support, Non-U.S. Gov'tUnited StatesJmd. [WWW] Keyword(s): Case-Control Studies, Fluorescence, Genetic Screening, Heterozygote Detection, Humans, Nerve Tissue Proteins/*genetics/metabolism, Polymerase Chain Reaction/*methods, Spinocerebellar Degenerations/*diagnosis/genetics, Trinucleotide Repeat Expansion/*genetics.



113. A. De Rosa, G. Volpe, L. Marcantonio, L. Santoro, A. Brice, A. Filla, A. Perretti, and G. De Michele. Neurophysiological evidence of corticospinal tract abnormality in patients with Parkin mutations. J Neurol, 253(3):275-9, 2006. Note: Journal ArticleGermany. [WWW] Keyword(s): Adolescent, Adult, DNA Mutational Analysis/methods, Evoked Potentials, Motor/genetics/radiation effects, Female, Humans, Magnetic Resonance Imaging/methods, Male, Middle Aged, Mutation/*genetics, *Neuropsychological Tests, Parkinson Disease/genetics/*pathology, Pyramidal Tracts/*abnormalities/physiopathology, Transcranial Magnetic Stimulation/methods, Ubiquitin-Protein Ligases/*genetics.



114. C. Depienne, C. Tallaksen, J. Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, and A. Durr. Gene symbol: SPAST. Disease: spastic paraparesis. Accession #Hs0515. Hum Genet, 118(6):785, 2006. Note: Journal ArticleGermany. [WWW] Keyword(s): Adenosine Triphosphatases/*genetics, Humans, Paraparesis, Spastic/*genetics, Point Mutation, RNA Splice Sites/genetics.



115. C. Depienne, C. Tallaksen, J. Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, and A. Durr. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases. J Med Genet, 43(3):259-65, 2006. Note: Comparative StudyLetterResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adenosine Triphosphatases/*genetics, Chromatography, High Pressure Liquid, DNA/genetics/isolation & purification, Diagnosis, Differential, Exons, Gene Frequency, Humans, *Mutation, Paraparesis, Spastic/*genetics, Paraplegia/*genetics.



116. O. Dubourg, H. Azzedine, C. Verny, G. Durosier, N. Birouk, R. Gouider, M. Salih, A. Bouhouche, A. Thiam, D. Grid, M. Mayer, M. Ruberg, M. Tazir, A. Brice, and E. LeGuern. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med, 8(1-2):75-86, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



117. O. Dubourg, H. Azzedine, R. B. Yaou, J. Pouget, A. Barois, V. Meininger, D. Bouteiller, M. Ruberg, A. Brice, and E. LeGuern. The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. Neurology, 66(11):1721-6, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Age of Onset, DNA Mutational Analysis, Family, Female, France/epidemiology, Genetic Predisposition to Disease/epidemiology/genetics, Glycine-tRNA Ligase/*genetics, Heterozygote, Humans, Incidence, Jews/genetics, Muscular Atrophy, Spinal/*epidemiology/*genetics, Mutation, Risk Assessment/*methods, Risk Factors.



118. N. Elleuch, C. Depienne, A. Benomar, A. M. Hernandez, X. Ferrer, B. Fontaine, D. Grid, C. M. Tallaksen, R. Zemmouri, G. Stevanin, A. Durr, and A. Brice. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology, 66(5):654-9, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Brain/pathology, DNA Mutational Analysis, Europe, Exons, Humans, Metalloendopeptidases/*genetics, *Mutation, Polymorphism, Genetic, Reverse Transcriptase Polymerase Chain Reaction, Spastic Paraplegia, Hereditary/*genetics/pathology, Variation (Genetics).



119. L. Fallon, C. M. Belanger, A. T. Corera, M. Kontogiannea, E. Regan-Klapisz, F. Moreau, J. Voortman, M. Haber, G. Rouleau, T. Thorarinsdottir, A. Brice, P. M. van Bergen En Henegouwen, and E. A. Fon. A regulated interaction with the UIM protein Eps15 implicates parkin in EGF receptor trafficking and PI(3)K-Akt signalling. Nat Cell Biol, 8(8):834-42, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): 1-Phosphatidylinositol 3-Kinase/*metabolism, Adaptor Proteins, Vesicular Transport/genetics/*metabolism, Animals, Blotting, Western, COS Cells, Cell Line, Cercopithecus aethiops, Endocytosis/drug effects/physiology, Epidermal Growth Factor/pharmacology, Hela Cells, Humans, Immunoprecipitation, Mice, Mice, Knockout, NIH 3T3 Cells, Protein Binding/drug effects/physiology, Protein Transport/drug effects/physiology, Proto-Oncogene Proteins c-akt/*metabolism, Receptor, Epidermal Growth Factor/*metabolism, Signal Transduction/drug effects/physiology, Transfection, Ubiquitin-Protein Ligases/genetics/*metabolism.



120. C. Hampe, H. Ardila-Osorio, M. Fournier, A. Brice, and O. Corti. Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity. Hum Mol Genet, 15(13):2059-75, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Amino Acid Motifs/genetics, Amino Acid Substitution/genetics, Animals, COS Cells, Cell-Free System, Cercopithecus aethiops, Humans, Immunohistochemistry, Mutant Proteins/genetics/metabolism, Mutation/*genetics, Mutation, Missense/*genetics, Parkinson Disease/*genetics, Plasmids/genetics, Point Mutation/genetics, Protein Processing, Post-Translational, Recombinant Proteins/genetics/metabolism, Solubility, Transfection, Ubiquitin/metabolism, Ubiquitin-Protein Ligases/*genetics/metabolism.



121. P. Ibanez, S. Lesage, E. Lohmann, S. Thobois, G. De Michele, M. Borg, Y. Agid, A. Durr, and A. Brice. Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain, 129(Pt 3):686-94, 2006. Note: French Parkinson's Disease Genetics Study GroupNs41723-01a1/ns/nindsCase ReportsJournal ArticleMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adult, Age of Onset, Aged, Amino Acid Sequence, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Molecular Sequence Data, *Mutation, Parkinsonian Disorders/*genetics, Pedigree, Protein Kinases/*genetics, Sequence Alignment, Ubiquitin-Protein Ligases/genetics.



122. Y. Ikeda, K. A. Dick, M. R. Weatherspoon, D. Gincel, K. R. Armbrust, J. C. Dalton, G. Stevanin, A. Durr, C. Zuhlke, K. Burk, H. B. Clark, A. Brice, J. D. Rothstein, L. J. Schut, J. W. Day, and L. P. Ranum. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet, 38(2):184-90, 2006. Note: Journal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Amino Acid Transport System X-AG/metabolism, Animals, Case-Control Studies, Cell Line, Cerebellum/pathology, Child, Chromosome Mapping, Cytoskeletal Proteins/chemistry/*genetics, Excitatory Amino Acid Transporter 4/metabolism, Female, Humans, Male, Mice, Middle Aged, Molecular Sequence Data, Nerve Tissue Proteins/chemistry/*genetics, Pedigree, Spectrin, Spinocerebellar Ataxias/*classification/*genetics.



123. L. Ishihara, L. Warren, R. Gibson, R. Amouri, S. Lesage, A. Durr, M. Tazir, Z. K. Wszolek, R. J. Uitti, W. C. Nichols, A. Griffith, N. Hattori, D. Leppert, R. Watts, C. P. Zabetian, T. M. Foroud, M. J. Farrer, A. Brice, L. Middleton, and F. Hentati. Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Arch Neurol, 63(9):1250-4, 2006. Note: K08 ns 044138/ns/nindsNs 41723-01a1/ns/nindsP50 ns 40256-02/ns/nindsR01 ns 037167/ns/nindsComparative StudyJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.United States. [WWW] Keyword(s): Aged, DNA Mutational Analysis/methods, *Family Health, Female, Gene Frequency, Genetic Predisposition to Disease, Glycine/*genetics, Humans, Male, Middle Aged, *Mutation, Parkinson Disease/epidemiology/*genetics, Protein-Serine-Threonine Kinases/*genetics, Serine/*genetics.



124. A. Janer, E. Martin, M. P. Muriel, M. Latouche, H. Fujigasaki, M. Ruberg, A. Brice, Y. Trottier, and A. Sittler. PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins. J Cell Biol, 174(1):65-76, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Animals, COS Cells, Cadmium Chloride/pharmacology, Cell Nucleus/*metabolism, Cells, Cultured, Cercopithecus aethiops, Humans, Interferon-beta/pharmacology, Mice, Mice, Transgenic, Multiprotein Complexes/drug effects/*metabolism, Mutation, Neoplasm Proteins/drug effects/*metabolism, Nerve Tissue Proteins/genetics/*metabolism, Nuclear Proteins/drug effects/*metabolism, Peptides/genetics, Proteasome Endopeptidase Complex/drug effects/*metabolism, Protein Isoforms/drug effects/metabolism, Transcription Factors/drug effects/*metabolism, Tumor Suppressor Proteins/drug effects/*metabolism.



125. S. Klebe, H. Azzedine, A. Durr, P. Bastien, N. Bouslam, N. Elleuch, S. Forlani, C. Charon, M. Koenig, J. Melki, A. Brice, and G. Stevanin. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain, 129(Pt 6):1456-62, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adult, Age of Onset, Cerebellar Ataxia/complications/*genetics/physiopathology, Chromosomes, Human, Pair 2/*genetics, Consanguinity, Female, Genes, Recessive, Genotype, Hereditary Sensory and Autonomic, Neuropathies/complications/*genetics/physiopathology, Humans, Lod Score, Male, Neural Conduction, Pedigree, Phenotype, Spastic Paraplegia, Hereditary/complications/*genetics/physiopathology.



126. M. Latouche, P. Fragner, E. Martin, K. H. El Hachimi, C. Zander, A. Sittler, M. Ruberg, A. Brice, and G. Stevanin. Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity. Mol Cell Neurosci, 31(3):438-45, 2006. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Animals, Brain/*metabolism/pathology/physiopathology, Cell Line, Cells, Cultured, Humans, Intranuclear Inclusion Bodies/genetics/*metabolism/pathology, Molecular Chaperones/genetics/metabolism, Nerve Tissue Proteins/genetics/*metabolism/toxicity, Neurofibrils/genetics/metabolism/pathology, Neurons/*metabolism/pathology, Peptides/*metabolism, Proteasome Endopeptidase Complex/genetics/metabolism, Protein Folding, Rats, Spinocerebellar Ataxias/genetics/metabolism/physiopathology.



127. I. Le Ber, F. Clot, L. Vercueil, A. Camuzat, M. Viemont, N. Benamar, P. De Liege, A. M. Ouvrard-Hernandez, P. Pollak, G. Stevanin, A. Brice, and A. Durr. Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. Neurology, 67(10):1769-73, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



128. I. Le Ber, E. Guedj, A. Gabelle, P. Verpillat, M. Volteau, C. Thomas-Anterion, M. Decousus, D. Hannequin, P. Vera, L. Lacomblez, A. Camuzat, M. Didic, M. Puel, J. A. Lotterie, V. Golfier, A. M. Bernard, M. Vercelletto, C. Magne, F. Sellal, I. Namer, B. F. Michel, J. Pasquier, F. Salachas, J. Bochet, A. Brice, M. O. Habert, and B. Dubois. Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia. Brain, 129(Pt 11):3051-65, 2006. Note: French research network on FTD/FTD-MNDJournal ArticleMulticenter StudyResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adult, Age of Onset, Aged, Brain/physiopathology/*radionuclide imaging, Brain Mapping/methods, Brain Stem/radionuclide imaging, Cerebrovascular Circulation, Cross-Sectional Studies, Dementia/genetics/*psychology/radionuclide imaging, Disease Progression, Female, Humans, Male, Middle Aged, Neuropsychological Tests, Prognosis, Social Behavior Disorders/*etiology, Survival Analysis, Tomography, Emission-Computed, Single-Photon.



129. I. Le Ber, S. Rivaud-Pechoux, A. Brice, and A. Durr. [Autosomal recessive cerebellar ataxias with oculomotor apraxia]. Rev Neurol (Paris), 162(2):177-84, 2006. Note: English AbstractJournal ArticleReviewFrance. [WWW] Keyword(s): Apraxias/*complications/genetics, Cerebellar Ataxia/classification/*complications/genetics, DNA Damage, DNA Repair, DNA-Binding Proteins/genetics, Genes, Recessive, Humans, Nuclear Proteins/genetics, Oculomotor Nerve Diseases/*complications/genetics, RNA Helicases/genetics.



130. S. Lesage, A. Durr, and A. Brice. [LRRK2 is a major gene in North African parkinsonism]. Med Sci (Paris), 22(5):470-1, 2006. Note: NewsFranceM/s. [WWW] Keyword(s): Africa, Northern, Humans, Parkinsonian Disorders/*genetics, Protein-Serine-Threonine Kinases/*genetics.



131. S. Lesage, A. Durr, M. Tazir, E. Lohmann, A. L. Leutenegger, S. Janin, P. Pollak, and A. Brice. LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med, 354(4):422-3, 2006. Note: French Parkinson's Disease Genetics Study GroupLetterUnited States. [WWW] Keyword(s): Africa, Northern/ethnology, Arabs/*genetics, Heterozygote, Homozygote, Humans, Middle Aged, Mutation, Parkinson Disease/*genetics, Protein-Serine-Threonine Kinases/*genetics.



132. A. L. Leutenegger, M. A. Salih, P. Ibanez, M. M. Mukhtar, S. Lesage, A. Arabi, E. Lohmann, A. Durr, A. E. Ahmed, and A. Brice. Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. Arch Neurol, 63(9):1257-61, 2006. Note: Ns 41723-01a1/ns/nindsComparative StudyJournal ArticleResearch Support, N.I.H., ExtramuralUnited States. [WWW] Keyword(s): Adenosine Triphosphate/*metabolism, Adolescent, Adult, Age of Onset, Alanine/genetics, Amino Acid Sequence, Aspartic Acid/genetics, DNA Mutational Analysis, *Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, *Mutation, Parkinsonian Disorders/*genetics, Protein Kinases/*genetics, Sudan.



133. A. Lossos, G. Stevanin, V. Meiner, Z. Argov, N. Bouslam, J. P. Newman, J. M. Gomori, S. Klebe, I. Lerer, N. Elleuch, S. Silverstein, A. Durr, O. Abramsky, Z. Ben-Nariah, and A. Brice. Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. Arch Neurol, 63(5):756-60, 2006. Note: Comparative StudyJournal ArticleMulticenter StudyResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Chromosomes, Human, Pair 15/genetics, Corpus Callosum/*abnormalities/*pathology, DNA Mutational Analysis/methods, Family Health, Female, *Genetic Heterogeneity, Humans, Linkage (Genetics), Magnetic Resonance Imaging/methods, Male, Membrane Proteins/classification/genetics, Pedigree, Spastic Paraplegia, Hereditary/*genetics/*pathology.



134. M. Namekawa, I. Nelson, P. Ribai, A. Durr, E. Denis, G. Stevanin, M. Ruberg, and A. Brice. A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene. Neurogenetics, 7(2):131-2, 2006. Note: LetterResearch Support, Non-U.S. Gov'tUnited States. [WWW]



135. M. Namekawa, P. Ribai, I. Nelson, S. Forlani, F. Fellmann, C. Goizet, C. Depienne, G. Stevanin, M. Ruberg, A. Durr, and A. Brice. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology, 66(1):112-4, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Brain/pathology/physiopathology, DNA Mutational Analysis, Family Health, GTP Phosphohydrolases/*genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Humans, Male, Middle Aged, Mutation/*genetics, Peripheral Nerves/pathology/physiopathology, Phenotype, Spastic Paraplegia, Hereditary/diagnosis/*genetics/physiopathology, Wallerian Degeneration/diagnosis/genetics.



136. N. Pineda-Trujillo, M. Apergi, S. Moreno, W. Arias, S. Lesage, A. Franco, D. Sepulveda-Falla, D. Cano, O. Buritica, D. Pineda, C. S. Uribe, J. G. de Yebenes, A. J. Lees, A. Brice, G. Bedoya, F. Lopera, and A. Ruiz-Linares. A genetic cluster of early onset Parkinson's disease in a Colombian population. Am J Med Genet B Neuropsychiatr Genet, 141(8):885-9, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited Statesthe official publication of the International Society of Psychiatric Genetics. [WWW]



137. P. Ribai, G. Stevanin, N. Bouslam, B. Pontier, I. Nelson, B. Fontaine, C. Dussert, C. Charon, A. Durr, and A. Brice. A new phenotype linked to SPG27 and refinement of the critical region on chromosome. J Neurol, 253(6):714-9, 2006. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tGermany. [WWW] Keyword(s): Adult, Cerebral Cortex/*pathology, Chromosome Mapping/methods, *Chromosomes, Human, Pair 10, Family Health, Female, Humans, Lod Score, Magnetic Resonance Imaging, Male, Phenotype, Spastic Paraplegia, Hereditary/*genetics/*pathology.



138. A. Rovelet-Lecrux, D. Hannequin, G. Raux, N. Le Meur, A. Laquerriere, A. Vital, C. Dumanchin, S. Feuillette, A. Brice, M. Vercelletto, F. Dubas, T. Frebourg, and D. Campion. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet, 38(1):24-6, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Age of Onset, Alzheimer Disease/epidemiology/*genetics/pathology, Amyloid beta-Protein/analysis/*genetics, Brain/*pathology, Case-Control Studies, Cerebral Amyloid Angiopathy/epidemiology/*genetics/pathology, Female, *Gene Duplication, Genes, Dominant, Humans, Male, Microsatellite Repeats, Polymerase Chain Reaction/methods.



139. M. Sharma, J. C. Mueller, A. Zimprich, P. Lichtner, A. Hofer, P. Leitner, S. Maass, D. Berg, A. Durr, V. Bonifati, G. De Michele, B. Oostra, A. Brice, N. W. Wood, B. Muller-Myhsok, and T. Gasser. The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. J Med Genet, 43(7):557-62, 2006. Note: European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD)Journal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Age of Onset, Alcohol Oxidoreductases/*genetics, Chromosome Mapping, Genetic Markers, Germany/epidemiology, Humans, Lod Score, Parkinson Disease/*genetics, Parkinsonian Disorders/*genetics, Polymorphism, Genetic, Polymorphism, Single Nucleotide, Reference Values, Siblings.



140. G. Stevanin, G. Montagna, H. Azzedine, E. M. Valente, A. Durr, V. Scarano, N. Bouslam, D. Cassandrini, P. S. Denora, C. Criscuolo, S. Belarbi, A. Orlacchio, P. Jonveaux, G. Silvestri, A. M. Hernandez, G. De Michele, M. Tazir, C. Mariotti, K. Brockmann, A. Malandrini, M. S. van der Knapp, M. Neri, H. Tonekaboni, M. A. Melone, A. Tessa, M. T. Dotti, M. Tosetti, F. Pauri, A. Federico, C. Casali, V. T. Cruz, J. L. Loureiro, F. Zara, S. Forlani, E. Bertini, P. Coutinho, A. Filla, A. Brice, and F. M. Santorelli. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics, 7(3):149-56, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



141. S. Tezenas du Montcel, F. Clot, M. Vidailhet, E. Roze, P. Damier, C. P. Jedynak, A. Camuzat, A. Lagueny, L. Vercueil, D. Doummar, L. Guyant-Marechal, J. L. Houeto, G. Ponsot, S. Thobois, M. A. Cournelle, A. Durr, F. Durif, B. Echenne, D. Hannequin, C. Tranchant, and A. Brice. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J Med Genet, 43(5):394-400, 2006. Note: French Dystonia NetworkJournal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adolescent, Adult, Aged, Child, Child, Preschool, Choreatic Disorders/diagnosis/genetics, Chromosomes, Human, Pair 7, Cohort Studies, DNA Mutational Analysis, Dystonic Disorders/*diagnosis/genetics, Female, France, Genetic Screening, Humans, Infant, Male, Middle Aged, Molecular Chaperones/genetics, *Mutation, Myoclonus/*diagnosis/genetics, Phenotype, Sarcoglycans/*genetics, Syndrome.



142. P. G. Unschuld, J. Dachsel, F. Darios, A. Kohlmann, E. Casademunt, K. Lehmann-Horn, M. Dichgans, M. Ruberg, A. Brice, T. Gasser, and C. B. Lucking. Parkin modulates gene expression in control and ceramide-treated PC12 cells. Mol Biol Rep, 33(1):13-32, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tNetherlands. [WWW]



143. M. F. Waters, N. A. Minassian, G. Stevanin, K. P. Figueroa, J. P. Bannister, D. Nolte, A. F. Mock, V. G. Evidente, D. B. Fee, U. Muller, A. Durr, A. Brice, D. M. Papazian, and S. M. Pulst. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet, 38(4):447-51, 2006. Note: R01gm43459/gm/nigmsR01gm66686/gm/nigmsR01n533123/phsT32gm065823/gm/nigmsJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Amino Acid Sequence, Animals, Cerebellar Ataxia/*genetics, Humans, *Ion Channel Gating, Molecular Sequence Data, *Mutation, *Mutation, Missense, Phenotype, Shaw Potassium Channels/chemistry/*genetics, Xenopus laevis.



144. Y. Baba, Y. Tsuboi, M. C. Baker, R. J. Uitti, M. L. Hutton, D. W. Dickson, M. Farrer, J. D. Putzke, B. K. Woodruff, B. Ghetti, J. R. Murrell, B. F. Boeve, R. C. Petersen, P. Verpillat, A. Brice, M. B. Delisle, O. Rascol, K. Arima, M. W. Dysken, M. Yasuda, T. Kobayashi, N. Sunohara, O. Komure, S. Kuno, A. D. Sperfeld, G. Stoppe, J. Kohlhase, S. Pickering-Brown, D. Neary, O. Bugiani, and Z. K. Wszolek. The effect of tau genotype on clinical features in FTDP-17. Parkinsonism Relat Disord, 11(4):205-8, 2005. Note: Journal ArticleEngland. [WWW] Keyword(s): Adult, Age of Onset, Dementia/*genetics, Female, Genotype, Humans, Male, Microtubule-Associated Proteins/*genetics, Middle Aged, Parkinsonian Disorders/*genetics, Phenotype, tau Proteins/*genetics.



145. V. Biancalana, M. Toft, I. Le Ber, F. Tison, E. Scherrer, S. Thibodeau, J. L. Mandel, A. Brice, M. J. Farrer, and A. Durr. FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. Arch Neurol, 62(6):962-6, 2005. Note: Ns40256/ns/nindsCase ReportsComparative StudyJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Adult, Aged, Alleles, Cerebellar Ataxia/complications/*genetics, Female, Fragile X Mental Retardation Protein, Fragile X Syndrome/complications/*genetics, Humans, Male, Middle Aged, Multiple System Atrophy/complications/*genetics, *Mutation, Nerve Tissue Proteins/*genetics, Olivopontocerebellar Atrophies/complications/genetics, RNA-Binding Proteins/*genetics, Tremor/complications/*genetics.



146. N. Bouslam, A. Benomar, H. Azzedine, A. Bouhouche, M. Namekawa, S. Klebe, C. Charon, A. Durr, M. Ruberg, A. Brice, M. Yahyaoui, and G. Stevanin. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol, 57(4):567-71, 2005. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, *Chromosome Mapping, *Chromosomes, Human, Pair 14, Female, Humans, Lod Score, Male, Microsatellite Repeats, Middle Aged, Morocco, Pedigree, Polymerase Chain Reaction, Spastic Paraplegia, Hereditary/*genetics.



147. A. Brice. Genetics of Parkinson's disease: LRRK2 on the rise. Brain, 128(Pt 12):2760-2, 2005. Note: CommentJournal ArticleEnglanda journal of neurology. [WWW] Keyword(s): Aged, Brain/metabolism, *Genes, Dominant, Genetic Counseling, Genetic Markers, Heterozygote, Humans, Mutation, Parkinson Disease/diagnosis/*genetics/metabolism/pathology, Penetrance, Protein-Serine-Threonine Kinases/*genetics.



148. A. Brice. How much does dardarin contribute to Parkinson's disease?. Lancet, 365(9457):363-4, 2005. Note: CommentJournal ArticleEngland. [WWW] Keyword(s): Adult, Age of Onset, Aged, Brain/pathology, Humans, Middle Aged, *Mutation, Parkinson Disease/diagnosis/*genetics/pathology, Protein-Serine-Threonine Kinases/*genetics.



149. E. Colin, E. Regulier, V. Perrin, A. Durr, A. Brice, P. Aebischer, N. Deglon, S. Humbert, and F. Saudou. Akt is altered in an animal model of Huntington's disease and in patients. Eur J Neurosci, 21(6):1478-88, 2005. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tFrance. [WWW] Keyword(s): Animals, Caspase 3, Caspases/metabolism, Cells, Cultured, Corpus Striatum/metabolism/pathology, *Disease Models, Animal, Female, Humans, Huntington Disease/genetics/*metabolism/pathology, Hydrolysis, Lymphocytes/enzymology/metabolism, Mice, Protein-Serine-Threonine Kinases/antagonists &, inhibitors/biosynthesis/genetics/*metabolism, Proto-Oncogene Proteins/antagonists &, Proto-Oncogene Proteins c-akt, Rats, Rats, Sprague-Dawley, Rats, Wistar.



150. O. Corti, C. Hampe, F. Darios, P. Ibanez, M. Ruberg, and A. Brice. Parkinson's disease: from causes to mechanisms. C R Biol, 328(2):131-42, 2005. Note: Journal ArticleReviewFrance. [WWW] Keyword(s): Corpus Striatum/physiopathology, Dopamine/physiology, Humans, Mitochondria/pathology/physiology, Nerve Tissue Proteins/genetics, Parkinson Disease/etiology/genetics/*physiopathology, Substantia Nigra/physiopathology, Synucleins, Ubiquitin-Protein Ligases/genetics.



151. J. C. Dachsel, C. B. Lucking, S. Deeg, E. Schultz, M. Lalowski, E. Casademunt, O. Corti, C. Hampe, N. Patenge, K. Vaupel, A. Yamamoto, M. Dichgans, A. Brice, E. E. Wanker, P. J. Kahle, and T. Gasser. Parkin interacts with the proteasome subunit alpha4. FEBS Lett, 579(18):3913-9, 2005. Note: Journal ArticleResearch Support, Non-U.S. Gov'tNetherlands. [WWW] Keyword(s): Animals, Cell Line, Cysteine Endopeptidases/chemistry/*metabolism, DNA, Complementary/metabolism, Humans, Immunoprecipitation, Models, Genetic, Multienzyme Complexes/chemistry, Mutation, PC12 Cells, Plasmids/metabolism, Proteasome Endopeptidase Complex/chemistry/metabolism, Protein Binding, Protein Structure, Tertiary, Rats, Signal Transduction, Two-Hybrid System Techniques, Ubiquitin/chemistry, Ubiquitin-Protein Ligases/chemistry/*metabolism.



152. F. Darios, M. P. Muriel, M. E. Khondiker, A. Brice, and M. Ruberg. Neurotoxic calcium transfer from endoplasmic reticulum to mitochondria is regulated by cyclin-dependent kinase 5-dependent phosphorylation of tau. J Neurosci, 25(16):4159-68, 2005. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited Statesthe official journal of the Society for Neuroscience. [WWW] Keyword(s): Analysis of Variance, Animals, Blotting, Western/methods, Calcium/*metabolism, Cell Count/methods, Cell Death/drug effects, Cells, Cultured, Ceramides/pharmacology, Cloning, Molecular/methods, Cyclin-Dependent Kinase 5/*physiology, Cytochalasin D/pharmacology, Drug Interactions, Embryo, Endoplasmic Reticulum/*metabolism/ultrastructure, Enzyme Activation/drug effects, Enzyme Inhibitors/pharmacology, Female, Gene Expression Regulation/drug effects, Heterocyclic Compounds, 3-Ring/diagnostic use, Immunohistochemistry/methods, Male, Mesencephalon/cytology, Microscopy, Electron, Transmission/methods, Mitochondria/*metabolism/ultrastructure, Neurons/drug effects/physiology/ultrastructure, Nocodazole/pharmacology, Phosphorylation, Pregnancy, Purines/pharmacology, Rats, Rats, Wistar, Time Factors, Transfection/methods, Tubulin/metabolism, tau Proteins/genetics/*metabolism.



153. S. Klebe, A. Durr, A. Rentschler, V. Hahn-Barma, M. Abele, N. Bouslam, L. Schols, P. Jedynak, S. Forlani, E. Denis, C. Dussert, Y. Agid, P. Bauer, C. Globas, U. Wullner, A. Brice, O. Riess, and G. Stevanin. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol, 58(5):720-9, 2005. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, DNA Mutational Analysis, Electromyography/methods, Exons, Family Health, Female, Humans, Magnetic Resonance Imaging/methods, Male, Middle Aged, Molecular Structure, *Mutation, Pedigree, Phenotype, *Polymorphism, Genetic, Protein Kinase C/*genetics, Spinocerebellar Ataxias/*genetics/pathology/physiopathology.



154. I. Le Ber, A. Brice, and A. Durr. New autosomal recessive cerebellar ataxias with oculomotor apraxia. Curr Neurol Neurosci Rep, 5(5):411-7, 2005. Note: Journal ArticleReviewUnited States. [WWW] Keyword(s): Cerebellar Ataxia/*complications/*genetics, DNA-Binding Proteins/classification/*genetics, Humans, Mutation, Nuclear Proteins/classification/*genetics, Ocular Motility Disorders/*complications/*genetics.



155. S. Lesage, P. Ibanez, E. Lohmann, P. Pollak, F. Tison, M. Tazir, A. L. Leutenegger, J. Guimaraes, A. M. Bonnet, Y. Agid, A. Durr, and A. Brice. G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Ann Neurol, 58(5):784-7, 2005. Note: French Parkinson's Disease Genetics Study GroupComparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Africa, Northern/epidemiology/ethnology, Aged, Aged, 80 and over, DNA Mutational Analysis/methods, *Family Health, Female, France/epidemiology/ethnology, Gene Frequency, Genetic Predisposition to Disease, Genotype, Glycine/*genetics, Humans, Male, Mental Status Schedule/statistics & numerical data, Middle Aged, *Mutation, Parkinson Disease/*genetics, Protein-Serine-Threonine Kinases/*genetics, Serine/*genetics.



156. S. Lesage, A. L. Leutenegger, and A. Brice. [LRRK2: a gene belonging to the ROCO family is implicated in the Parkinson's disease]. Med Sci (Paris), 21(12):1015-7, 2005. Note: NewsFranceM/s. [WWW] Keyword(s): Humans, Parkinson Disease/*genetics, Protein-Serine-Threonine Kinases/*genetics.



157. S. Lesage, A. L. Leutenegger, P. Ibanez, S. Janin, E. Lohmann, A. Durr, and A. Brice. LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century. Am J Hum Genet, 77(2):330-2, 2005. Note: French Parkinson's Disease Genetics Study GroupLetterResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Africa, Northern, African Continental Ancestry Group, European Continental Ancestry Group, Family Health, *Founder Effect, Genetic Markers, Genotype, *Haplotypes, Humans, Microsatellite Repeats, Middle Aged, *Mutation, Parkinson Disease/*genetics, Protein-Serine-Threonine Kinases/*genetics.



158. S. Mace, E. Cousin, S. Ricard, E. Genin, E. Spanakis, C. Lafargue-Soubigou, B. Genin, R. Fournel, S. Roche, G. Haussy, F. Massey, S. Soubigou, G. Brefort, P. Benoit, A. Brice, D. Campion, M. Hollis, L. Pradier, J. Benavides, and J. F. Deleuze. ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease. Neurobiol Dis, 18(1):119-25, 2005. Note: Journal ArticleUnited States. [WWW] Keyword(s): ATP-Binding Cassette Transporters/*genetics/metabolism, Age of Onset, Aged, Alzheimer Disease/epidemiology/*genetics/metabolism, Apolipoprotein E4, Apolipoproteins E/genetics, Brain/metabolism/physiopathology, Case-Control Studies, Cholesterol/*metabolism, DNA Mutational Analysis, European Continental Ancestry Group/genetics, Female, France/epidemiology, Gene Frequency, Genetic Markers/genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Genotype, Humans, Male, Middle Aged, Mutation/*genetics, Odds Ratio, Polymorphism, Single Nucleotide/*genetics, Risk Factors, Sex Factors, Variation (Genetics)/genetics.



159. M. Martinez, A. Brice, J. R. Vaughan, A. Zimprich, M. M. Breteler, G. Meco, A. Filla, M. J. Farrer, C. Betard, A. Singleton, J. Hardy, G. De Michele, V. Bonifati, B. A. Oostra, T. Gasser, N. W. Wood, and A. Durr. Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet, 136(1):72-4, 2005. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited Statesthe official publication of the International Society of Psychiatric Genetics. [WWW] Keyword(s): Alleles, Apolipoprotein E4, Apolipoproteins E/*genetics, Chromosomes, Human, Pair 19/*genetics, Family Health, Gene Frequency, Genotype, Humans, *Linkage (Genetics), Linkage Disequilibrium, Lod Score, Microsatellite Repeats, Parkinson Disease/*genetics, Siblings.



160. M. Naimi, S. Tardieu, C. Depienne, M. Ruberg, A. Brice, O. Dubourg, and E. Leguern. Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements. Am J Med Genet A, 136(2):136-9, 2005. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Charcot-Marie-Tooth Disease/genetics/pathology, Chromatography, High Pressure Liquid/*methods, *Chromosome Aberrations, Chromosomes, Human, Pair 17/genetics, DNA/genetics, Gene Dosage, Hereditary Motor and Sensory Neuropathies/genetics/pathology, Humans, Myelin Proteins/genetics, Paralysis/genetics/pathology, Polymerase Chain Reaction, Prospective Studies, Reproducibility of Results.



161. F. Ochsner, I. Le Ber, G. Said, M. C. Moreira, P. Michel, M. Koenig, A. Durr, A. Brice, and T. Kuntzer. [Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia]. Rev Neurol (Paris), 161(3):331-6, 2005. Note: Case ReportsEnglish AbstractJournal ArticleFrance. [WWW] Keyword(s): Brain/pathology, Cerebellar Ataxia/*genetics/pathology, Charcot-Marie-Tooth Disease/*genetics/pathology, DNA-Binding Proteins/*genetics, Humans, Infant, Magnetic Resonance Imaging, Male, Nuclear Proteins/*genetics, Phenotype, Sural Nerve/pathology.



162. M. Periquet, O. Corti, S. Jacquier, and A. Brice. Proteomic analysis of parkin knockout mice: alterations in energy metabolism, protein handling and synaptic function. J Neurochem, 95(5):1259-76, 2005. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Animals, Blotting, Western/methods, Brain/*metabolism, Databases, Protein, Diagnostic Imaging/methods, Electrophoresis, Gel, Two-Dimensional/methods, Energy Metabolism/*genetics, Mice, Mice, Knockout, Proteins/*metabolism, *Proteomics, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization/methods, Synapses/*physiology, Ubiquitin-Protein Ligases/*deficiency.



163. J. Prestel, M. Sharma, P. Leitner, A. Zimprich, J. R. Vaughan, A. Durr, V. Bonifati, G. De Michele, H. A. Hanagasi, M. Farrer, A. Hofer, F. Asmus, G. Volpe, G. Meco, A. Brice, N. W. Wood, B. Muller-Myhsok, and T. Gasser. PARK11 is not linked with Parkinson's disease in European families. Eur J Hum Genet, 13(2):193-7, 2005. Note: European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD)P01 ns40256/ns/nindsJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.EnglandEjhg. [WWW] Keyword(s): Chromosomes, Human, Pair 2/*genetics, Europe, European Continental Ancestry Group, Humans, *Lod Score, Parkinson Disease/*genetics.



164. G. Raux, L. Guyant-Marechal, C. Martin, J. Bou, C. Penet, A. Brice, D. Hannequin, T. Frebourg, and D. Campion. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. J Med Genet, 42(10):793-5, 2005. Note: LetterEngland. [WWW] Keyword(s): Adult, *Age of Onset, Aged, Alzheimer Disease/*diagnosis/*genetics, Amyloid/chemistry, Exons, Family Health, Genes, Dominant, Humans, Membrane Proteins/genetics, Middle Aged, *Molecular Diagnostic Techniques, Mutation, Presenilin-1, Presenilin-2.



165. A. Riba, G. Stevanin, S. Trefouret, I. Nelson, C. Soumphonphakdy, J. Pouget, A. Durr, and A. Brice. Extension of the SPG26 phenotype in a Spanish family and refinement of its locus on chromosome 12. Eletter, J Med Genet, 42(1):80-82, 2005.



166. G. Stevanin, A. Durr, N. Benammar, and A. Brice. Spinocerebellar ataxia with mental retardation (SCA13). Cerebellum, 4(1):43-6, 2005. Note: Journal ArticleResearch Support, Non-U.S. Gov'tReviewEngland. [WWW] Keyword(s): Chromosome Mapping, *Chromosomes, Human, Pair 19, DNA Mutational Analysis/methods, Humans, Linkage (Genetics), Magnetic Resonance Imaging/methods, Mental Retardation/complications/*genetics, Pedigree, Phenotype, Spinocerebellar Ataxias/classification/complications/*genetics.



167. B. P. van de Warrenburg, H. Hendriks, A. Durr, M. C. van Zuijlen, G. Stevanin, A. Camuzat, R. J. Sinke, A. Brice, and B. P. Kremer. Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. Ann Neurol, 57(4):505-12, 2005. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Age Factors, Age of Onset, Cohort Studies, France, Humans, Netherlands, Sex Factors, Spinocerebellar Ataxias/*genetics, Trinucleotide Repeat Expansion/*genetics.



168. A. Abel, N. Fonknechten, A. Hofer, A. Durr, C. Cruaud, T. Voit, J. Weissenbach, A. Brice, S. Klimpe, G. Auburger, and J. Hazan. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics, 5(4):239-43, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Amino Acid Sequence, Child, Exons, Family Health, Female, France, GTP Phosphohydrolases/*genetics, Genes, Dominant, Germany, Humans, Male, Molecular Sequence Data, *Mutation, Missense, Spastic Paraplegia, Hereditary/*genetics.



169. A. Durr, A. Camuzat, E. Colin, C. Tallaksen, D. Hannequin, P. Coutinho, B. Fontaine, A. Rossi, R. Gil, C. Rousselle, M. Ruberg, G. Stevanin, and A. Brice. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol, 61(12):1867-72, 2004. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Child, Child, Preschool, Female, GTP Phosphohydrolases/*genetics, Humans, Male, Middle Aged, *Mutation, Pedigree, Spastic Paraplegia, Hereditary/*genetics.



170. I. Gourfinkel-An, S. Baulac, R. Nabbout, A. Brice, M. Baulac, and E. Leguern. [Recent insights into the implication of ion channels in familial forms of epilepsies associated or non associated to febrile convulsions]. Rev Neurol (Paris), 160(5 Pt 2):S90-7, 2004. Note: English AbstractJournal ArticleResearch Support, Non-U.S. Gov'tReviewFrance. [WWW] Keyword(s): Child, Chloride Channels/genetics, Epilepsy/*genetics/*physiopathology, Epilepsy, Generalized/genetics/physiopathology, Humans, Ion Channels/*physiology, Mutation/physiology, Myoclonic Epilepsy, Juvenile/genetics, Receptors, GABA-A/genetics, Seizures, Febrile/*genetics/*physiopathology.



171. I. Gourfinkel-An, S. Baulac, R. Nabbout, M. Ruberg, M. Baulac, A. Brice, and E. LeGuern. Monogenic idiopathic epilepsies. Lancet Neurol, 3(4):209-18, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tReviewEngland. [WWW] Keyword(s): Animals, Anticonvulsants/therapeutic use, Epilepsy/classification/complications/drug therapy/*genetics, Epilepsy, Benign Neonatal/genetics, Epilepsy, Generalized/genetics, Epilepsy, Temporal Lobe/genetics, Humans, Ion Channels/chemistry/drug effects/*genetics, *Mutation, Receptors, Neurotransmitter/chemistry/drug effects/*genetics, Seizures, Febrile/genetics.



172. P. Ibanez, A. M. Bonnet, B. Debarges, E. Lohmann, F. Tison, P. Pollak, Y. Agid, A. Durr, and A. Brice. Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet, 364(9440):1169-71, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adult, Age of Onset, Aged, Aged, 80 and over, Disease Progression, Female, *Gene Duplication, Humans, Lewy Body Disease/genetics, Male, Microsatellite Repeats, Middle Aged, Mutation, Missense, Nerve Tissue Proteins/*genetics, Parkinson Disease/*genetics, Phenotype, Polymerase Chain Reaction, Synucleins, alpha-Synuclein.



173. P. Ibanez, E. Lohmann, P. Pollak, F. Durif, C. Tranchant, Y. Agid, A. Durr, and A. Brice. Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease. Neurology, 62(11):2133-4, 2004. Note: French Parkinson's Disease Genetics Study GroupNs41723-01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Adult, Age of Onset, Aged, Aged, 80 and over, DNA Mutational Analysis, DNA-Binding Proteins/*genetics, Europe/ethnology, Exons/genetics, Female, France/epidemiology, Genes, Dominant, Humans, Male, Middle Aged, Parkinson Disease/epidemiology/*genetics, Transcription Factors/*genetics.



174. I. Le Ber, N. Bouslam, S. Rivaud-Pechoux, J. Guimaraes, A. Benomar, C. Chamayou, C. Goizet, M. C. Moreira, S. Klur, M. Yahyaoui, Y. Agid, M. Koenig, G. Stevanin, A. Brice, and A. Durr. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain, 127(Pt 4):759-67, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Apraxias/*genetics/physiopathology, Biological Markers/blood, Child, Child, Preschool, Disease Progression, Gait Ataxia/*genetics/physiopathology, Haplotypes, Humans, Linkage (Genetics), Lod Score, Middle Aged, Neuropsychological Tests, Ocular Motility Disorders/*genetics/physiopathology, Pedigree, Phenotype, alpha-Fetoproteins/analysis.



175. C. Lo Bianco, B. L. Schneider, M. Bauer, A. Sajadi, A. Brice, T. Iwatsubo, and P. Aebischer. Lentiviral vector delivery of parkin prevents dopaminergic degeneration in an alpha-synuclein rat model of Parkinson's disease. Proc Natl Acad Sci U S A, 101(50):17510-5, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Alanine/genetics/metabolism, Animals, Brain/metabolism/pathology, Disease Models, Animal, Dopamine/*metabolism, Female, Gene Expression, *Gene Therapy, Genetic Vectors/genetics, Lentivirus/*genetics, Mutation/genetics, Nerve Tissue Proteins/genetics/*metabolism, Neurons/metabolism/pathology, Parkinson Disease/genetics/*metabolism/*pathology/therapy, Phosphorylation, Rats, Rats, Wistar, Synucleins, Ubiquitin-Protein Ligases/genetics/*metabolism, alpha-Synuclein.



176. M. Martinez, A. Brice, J. R. Vaughan, A. Zimprich, M. M. Breteler, G. Meco, A. Filla, M. J. Farrer, C. Betard, J. Hardy, G. De Michele, V. Bonifati, B. Oostra, T. Gasser, N. W. Wood, and A. Durr. Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease. J Med Genet, 41(12):900-7, 2004. Note: French Parkinson's Disease Genetics Study GroupEuropean Consortium on Genetic Susceptibility in Parkinson's DiseaseNs41723-01a1/ns/nindsP01 ns40256/ns/nindsJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.England. [WWW] Keyword(s): Adult, Aged, Aged, 80 and over, Chromosome Mapping, Cohort Studies, Europe, Genetic Predisposition to Disease, Genetic Screening, Genome, Human, Genotype, Humans, *Linkage (Genetics), Lod Score, Microsatellite Repeats/genetics, Middle Aged, Parkinson Disease/*genetics, United States.



177. M. C. Moreira, S. Klur, M. Watanabe, A. H. Nemeth, I. Le Ber, J. C. Moniz, C. Tranchant, P. Aubourg, M. Tazir, L. Schols, M. Pandolfo, J. B. Schulz, J. Pouget, P. Calvas, M. Shizuka-Ikeda, M. Shoji, M. Tanaka, L. Izatt, C. E. Shaw, A. M'Zahem, E. Dunne, P. Bomont, T. Benhassine, N. Bouslam, G. Stevanin, A. Brice, J. Guimaraes, P. Mendonca, C. Barbot, P. Coutinho, J. Sequeiros, A. Durr, J. M. Warter, and M. Koenig. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet, 36(3):225-7, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Cerebellar Ataxia/*genetics, Chromosome Mapping, Chromosomes, Human, Pair 9, Fungal Proteins/*genetics, Humans, Mutation, Ocular Motility Disorders/*genetics, RNA Helicases/*genetics, Saccharomyces cerevisiae Proteins/genetics, alpha-Fetoproteins/metabolism.



178. A. Mouatt-Prigent, M. P. Muriel, W. J. Gu, K. H. El Hachimi, C. B. Lucking, A. Brice, and E. C. Hirsch. Ultrastructural localization of parkin in the rat brainstem, thalamus and basal ganglia. J Neural Transm, 111(10-11):1209-18, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tAustria1996). [WWW] Keyword(s): Animals, Anti-Bacterial Agents/pharmacology, Basal Ganglia/*metabolism/*ultrastructure, Brain Stem/*metabolism/*ultrastructure, Dendrites/drug effects/metabolism/ultrastructure, Doxycycline/pharmacology, Endoplasmic Reticulum/drug effects/metabolism/ultrastructure, Immunohistochemistry, Male, Mitochondria/drug effects/metabolism/ultrastructure, Neuroglia/drug effects/metabolism/ultrastructure, Neurons/drug effects/metabolism/ultrastructure, PC12 Cells, Rats, Rats, Wistar, Synapses/drug effects/metabolism/ultrastructure, Thalamus/*metabolism/*ultrastructure, Ubiquitin-Protein Ligases/*biosynthesis/*genetics.



179. D. Seilhean, J. Takahashi, K. H. El Hachimi, H. Fujigasaki, A. S. Lebre, V. Biancalana, A. Durr, F. Salachas, J. Hogenhuis, H. de The, J. J. Hauw, V. Meininger, A. Brice, and C. Duyckaerts. Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions. Acta Neuropathol (Berl), 108(1):81-7, 2004. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tGermany. [WWW] Keyword(s): Amyotrophic Lateral Sclerosis/*metabolism, Cysteine Endopeptidases/metabolism, Female, Hippocampus/*pathology, Humans, Immunohistochemistry/methods, Intranuclear Inclusion Bodies/*metabolism/ultrastructure, Microscopy, Electron/methods, Middle Aged, Multienzyme Complexes/metabolism, Neoplasm Proteins/metabolism, Nerve Tissue Proteins/metabolism, Neurons/*metabolism/ultrastructure, Nuclear Proteins/metabolism, Postmortem Changes, Proteasome Endopeptidase Complex, Repressor Proteins, Staining and Labeling, Transcription Factors/metabolism, Tumor Suppressor Proteins, Ubiquitin/metabolism.



180. G. Stevanin, N. Bouslam, S. Thobois, H. Azzedine, L. Ravaux, A. Boland, M. Schalling, E. Broussolle, A. Durr, and A. Brice. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann Neurol, 55(1):97-104, 2004. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Action Potentials/physiology, Adult, Brain/pathology, Child, *Chromosome Mapping, Chromosomes, Human, Pair 2/*genetics, Female, *Genes, Dominant, Haplotypes, Humans, Infant, Lod Score, Magnetic Resonance Imaging, Male, Middle Aged, Neural Conduction/physiology, Neurons, Afferent/pathology, Pedigree, Polymerase Chain Reaction, Spinocerebellar Ataxias/*genetics/pathology/physiopathology.



181. G. Stevanin, A. Durr, C. Dussert, C. Penet, and A. Brice. Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians. Neurology, 63(5):936, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): 3' Untranslated Regions/genetics, Adolescent, Adult, Aged, DNA Mutational Analysis, European Continental Ancestry Group/genetics, Exons/genetics, Female, Fibroblast Growth Factors/chemistry/*genetics, France, Humans, Male, Middle Aged, Polymerase Chain Reaction, Sequence Analysis, DNA, Spinocerebellar Ataxias/*genetics.



182. G. Stevanin, V. Hahn, E. Lohmann, N. Bouslam, M. Gouttard, C. Soumphonphakdy, M. L. Welter, E. Ollagnon-Roman, A. Lemainque, M. Ruberg, A. Brice, and A. Durr. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol, 61(8):1242-8, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Aged, Amino Acid Sequence, Base Sequence, Brain/pathology, Catalytic Domain/*genetics, Chromosomes, Human, Pair 19/enzymology/genetics, Female, Humans, Linkage (Genetics)/genetics, Male, Middle Aged, Molecular Sequence Data, *Mutation, Missense, Pedigree, *Phenotype, Protein Kinase C/*genetics, Spinocerebellar Ataxias/*enzymology/*genetics/pathology.



183. A. Varrone, M. T. Pellecchia, M. Amboni, V. Sansone, E. Salvatore, D. Ghezzi, B. Garavaglia, A. Brice, A. Brunetti, V. Bonavita, G. De Michele, M. Salvatore, S. Pappata, and P. Barone. Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease. Neurology, 63(11):2097-103, 2004. Note: Ns41723-o1a1/ns/nindsComparative StudyJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Corpus Striatum/chemistry/physiopathology/*radionuclide imaging, DNA Mutational Analysis, Dopamine/*metabolism, Dopamine Plasma Membrane Transport Proteins, Female, Genotype, Humans, Iodine Radioisotopes/*diagnostic use/pharmacokinetics, Male, Membrane Glycoproteins/metabolism, Membrane Transport Proteins/metabolism, Middle Aged, Nerve Tissue Proteins/metabolism, Parkinsonian Disorders/epidemiology/genetics/metabolism/*radionuclide, imaging, Radiopharmaceuticals/*diagnostic use/pharmacokinetics, Sequence Deletion, Substantia Nigra/chemistry/physiopathology/*radionuclide imaging, *Tomography, Emission-Computed, Single-Photon, Tropanes/*diagnostic use/pharmacokinetics, Ubiquitin-Protein Ligases/*deficiency/genetics.



184. C. Verny, N. Ravise, A. L. Leutenegger, F. Pouplard, O. Dubourg, S. Tardieu, F. Dubas, A. Brice, E. Genin, and E. LeGuern. Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family. Neurology, 63(8):1527-9, 2004. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Charcot-Marie-Tooth Disease/*genetics, *Chromosome Aberrations, Chromosomes, Human, Pair 17/*genetics, DNA Mutational Analysis, Disease Progression, Family Health, Female, Genes, Recessive/genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Humans, Inheritance Patterns/*genetics, Male, Muscle Weakness/genetics/pathology/physiopathology, Mutation/*genetics, Nerve Fibers, Myelinated/pathology, Pedigree, Peripheral Nerves/pathology/physiopathology, Protein-Tyrosine-Phosphatase/genetics.



185. H. Azzedine, A. Bolino, T. Taieb, N. Birouk, M. Di Duca, A. Bouhouche, S. Benamou, A. Mrabet, T. Hammadouche, T. Chkili, R. Gouider, R. Ravazzolo, A. Brice, J. Laporte, and E. LeGuern. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet, 72(5):1141-53, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Age of Onset, Amino Acid Sequence, Carrier Proteins/*genetics, Charcot-Marie-Tooth Disease/complications/*genetics, Child, Child, Preschool, Chromosomes, Human, Pair 11/genetics, Consanguinity, DNA Mutational Analysis, Demyelinating Diseases/complications/*genetics, Female, Genes, Recessive, Glaucoma/complications/*genetics, Humans, *Intracellular Signaling Peptides and Proteins, Male, Molecular Sequence Data, Morocco, Mutation, Phosphoric Monoester Hydrolases/genetics, Physical Chromosome Mapping, Protein-Tyrosine-Phosphatase/*genetics, Sequence Homology, Amino Acid, Syndrome, Tunisia.



186. H. Azzedine, M. Ruberg, D. Ente, C. Gilardeau, S. Perie, B. Wechsler, A. Brice, E. LeGuern, and O. Dubourg. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. Neuromuscul Disord, 13(4):341-6, 2003. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tEnglandNmd. [WWW] Keyword(s): Adult, Arginine/genetics, Charcot-Marie-Tooth Disease/*genetics, DNA Mutational Analysis, Disease Progression, Electrophysiology, Family, Female, Genes, Recessive, Glutamine/genetics, Humans, Male, *Mutation, Nerve Tissue Proteins/*genetics, Pedigree, Phenotype, Serine/genetics.



187. N. Birouk, H. Azzedine, O. Dubourg, M. P. Muriel, A. Benomar, T. Hamadouche, T. Maisonobe, R. Ouazzani, A. Brice, M. Yahyaoui, T. Chkili, and E. Le Guern. Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. Arch Neurol, 60(4):598-604, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Charcot-Marie-Tooth Disease/*ethnology/*genetics/pathology, Child, Preschool, Consanguinity, DNA Mutational Analysis, Electrophysiology, Female, Genes, Recessive/*genetics, Humans, Infant, Lod Score, Male, Morocco/ethnology, *Mutation, Pedigree, Phenotype, Serine/genetics.



188. V. Bonifati, P. Rizzu, F. Squitieri, E. Krieger, N. Vanacore, J. C. van Swieten, A. Brice, C. M. van Duijn, B. Oostra, G. Meco, and P. Heutink. DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism. Neurol Sci, 24(3):159-60, 2003. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tItalyofficial journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. [WWW] Keyword(s): *Chromosomes, Human, Pair 1, DNA Mutational Analysis, Family Health, Humans, Intracellular Signaling Peptides and Proteins, Mutation, Oncogene Proteins/*genetics, Parkinsonian Disorders/*genetics.



189. V. Bonifati, P. Rizzu, M. J. van Baren, O. Schaap, G. J. Breedveld, E. Krieger, M. C. Dekker, F. Squitieri, P. Ibanez, M. Joosse, J. W. van Dongen, N. Vanacore, J. C. van Swieten, A. Brice, G. Meco, C. M. van Duijn, B. A. Oostra, and P. Heutink. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science, 299(5604):256-9, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Alleles, Amino Acid Sequence, Amino Acid Substitution, Animals, Base Sequence, Brain/metabolism, COS Cells, Cell Nucleus/metabolism, Chromosomes, Human, Pair 1, Cloning, Molecular, Cytoplasm/metabolism, DNA, Complementary, Exons, Genes, Recessive, Humans, Intracellular Signaling Peptides and Proteins, Molecular Sequence Data, *Mutation, Oncogene Proteins/chemistry/*genetics/metabolism, Oxidative Stress, PC12 Cells, Parkinsonian Disorders/*genetics/metabolism, Pedigree, Physical Chromosome Mapping, Point Mutation, Protein Structure, Secondary, Rats, Reverse Transcriptase Polymerase Chain Reaction, Sequence Deletion, Transfection.



190. A. Brice. Alpha-synuclein gene triplication discovered in Parkinson's disease. Lancet Neurol, 2(12):715, 2003.



191. O. Corti and A. Brice. [Parkinson's disease: what have we learned from the genes responsible for familial forms?]. Med Sci (Paris), 19(5):613-9, 2003. Note: Comparative StudyEnglish AbstractJournal ArticleReviewFranceM/s. [WWW] Keyword(s): Age of Onset, Chromosomes, Human/genetics, Cysteine Endopeptidases/metabolism, Dopamine/physiology, Genes, Dominant, Genes, Recessive, Humans, Intracellular Signaling Peptides and Proteins, Lewy Bodies, Ligases/deficiency/genetics/*physiology, MPTP Poisoning/physiopathology, Models, Neurological, Multienzyme Complexes/metabolism, Nerve Tissue Proteins/deficiency/genetics/physiology, Oncogene Proteins/genetics/physiology, Parkinson Disease/epidemiology/*genetics, Proteasome Endopeptidase Complex, Protein Folding, Substantia Nigra/physiopathology, Synucleins, Thiolester Hydrolases/deficiency/physiology, Ubiquitin/metabolism, Ubiquitin Thiolesterase, *Ubiquitin-Protein Ligases, alpha-Synuclein.



192. O. Corti, C. Hampe, H. Koutnikova, F. Darios, S. Jacquier, A. Prigent, J. C. Robinson, L. Pradier, M. Ruberg, M. Mirande, E. Hirsch, T. Rooney, A. Fournier, and A. Brice. The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration. Hum Mol Genet, 12(12):1427-37, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adult, Amino Acyl-tRNA Synthetases/*metabolism, Animals, COS Cells, Carrier Proteins/*metabolism, Cell Death/*drug effects, Cercopithecus aethiops, Humans, Inclusion Bodies, Lewy Bodies/metabolism/pathology, Mesencephalon/*metabolism, Mutation, Nerve Degeneration/metabolism/pathology, Neuroblastoma/metabolism/pathology, Parkinson Disease/*genetics/physiopathology, Saccharomyces cerevisiae, Two-Hybrid System Techniques, Ubiquitin/metabolism, Ubiquitin-Protein Ligases/genetics/*metabolism, p38 Mitogen-Activated Protein Kinases.



193. E. Cousin, D. Hannequin, S. Mace, B. Dubois, S. Ricard, E. Genin, C. Brun, C. Chansac, L. Pradier, T. Frebourg, A. Brice, D. Campion, and J. F. Deleuze. No replication of the association between the Nicastrin gene and familial early-onset Alzheimer's disease. Neurosci Lett, 353(2):153-5, 2003. Note: Comparative StudyJournal ArticleIreland. [WWW] Keyword(s): Age of Onset, Aged, Alzheimer Disease/*genetics, Amyloid Precursor Protein Secretases, Apolipoprotein E4, Apolipoproteins E/genetics, France, Gene Frequency, Genotype, Haplotypes, Humans, Membrane Glycoproteins/*genetics, Middle Aged, Polymerase Chain Reaction, Polymorphism, Single Nucleotide.



194. E. Cousin, D. Hannequin, S. Ricard, S. Mace, E. Genin, C. Chansac, A. Brice, B. Dubois, T. Frebourg, L. Mercken, J. Benavides, L. Pradier, D. Campion, and J. F. Deleuze. A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism. Neurosci Lett, 342(1-2):5-8, 2003. Note: Journal ArticleIreland. [WWW] Keyword(s): Age Factors, Age of Onset, Aged, Aged, 80 and over, Alleles, Alzheimer Disease/epidemiology/*genetics, Case-Control Studies, Female, Genotype, Humans, *Introns, Male, Middle Aged, Nerve Tissue Proteins/*genetics, Nuclear Proteins/*genetics, *Polymorphism, Genetic, Risk Factors, Sex Factors.



195. F. Darios, O. Corti, C. B. Lucking, C. Hampe, M. P. Muriel, N. Abbas, W. J. Gu, E. C. Hirsch, T. Rooney, M. Ruberg, and A. Brice. Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death. Hum Mol Genet, 12(5):517-26, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Animals, Caspase 3, Caspases/metabolism, Cell Death/physiology, Ceramides/metabolism, Cytochrome c Group/*metabolism, Humans, Ligases/*metabolism, Mitochondria/*metabolism, Neurons/metabolism, Rats, Ubiquitin-Protein Ligases.



196. I. Gourfinkel-An, K. Parain, A. Hartmann, L. Mangiarini, A. Brice, G. Bates, and E. C. Hirsch. Changes in GAD67 mRNA expression evidenced by in situ hybridization in the brain of R6/2 transgenic mice. J Neurochem, 86(6):1369-78, 2003. Note: Journal ArticleEngland. [WWW] Keyword(s): Animals, Brain/*metabolism/parasitology, Disease Models, Animal, Disease Progression, Glutamate Decarboxylase/*genetics, Humans, Huntington Disease/*metabolism/pathology, In Situ Hybridization, Isoenzymes/*genetics, Mice, Mice, Transgenic, RNA, Messenger/*metabolism, Trinucleotide Repeat Expansion.



197. W. J. Gu, O. Corti, F. Araujo, C. Hampe, S. Jacquier, C. B. Lucking, N. Abbas, C. Duyckaerts, T. Rooney, L. Pradier, M. Ruberg, and A. Brice. The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates. Neurobiol Dis, 14(3):357-64, 2003. Note: 1r01ns41723-01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Animals, COS Cells, Cysteine Endopeptidases/metabolism, Humans, Inclusion Bodies/*genetics/metabolism, Macromolecular Substances, Microtubules/metabolism, Multienzyme Complexes/metabolism, Mutation, Missense/*genetics, Neurons/*metabolism/pathology, Parkinson Disease/*genetics/metabolism/physiopathology, Proteasome Endopeptidase Complex, Protein Folding, Protein Structure, Tertiary/genetics, Protein Transport/physiology, Solubility, Ubiquitin-Protein Ligases/genetics/*metabolism, Ubiquitins/metabolism.



198. P. Ibanez, G. De Michele, V. Bonifati, E. Lohmann, S. Thobois, P. Pollak, Y. Agid, P. Heutink, A. Durr, and A. Brice. Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism. Neurology, 61(10):1429-31, 2003. Note: French Parkinson's Disease Genetics Study GroupNs41723-01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Child, DNA Mutational Analysis, Female, Gene Frequency, Genetic Predisposition to Disease, Humans, Intracellular Signaling Peptides and Proteins, Male, Middle Aged, *Mutation, Oncogene Proteins/*genetics, Parkinsonian Disorders/diagnosis/*genetics.



199. S. N. Illarioshkin, M. Periquet, N. Rawal, C. B. Lucking, T. B. Zagorovskaya, P. A. Slominsky, O. V. Miloserdova, E. D. Markova, S. A. Limborska, I. A. Ivanova-Smolenskaya, and A. Brice. Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism. Mov Disord, 18(8):914-9, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited Statesofficial journal of the Movement Disorder Society. [WWW] Keyword(s): Adult, Antiparkinson Agents/therapeutic use, DNA Mutational Analysis, GTP Cyclohydrolase/genetics, Humans, Levodopa/therapeutic use, Middle Aged, Parkinsonian Disorders/drug therapy/*ethnology/*genetics, Pedigree, Point Mutation/*genetics, Severity of Illness Index, Ubiquitin-Protein Ligases/*genetics.



200. J. M. Itier, P. Ibanez, M. A. Mena, N. Abbas, C. Cohen-Salmon, G. A. Bohme, M. Laville, J. Pratt, O. Corti, L. Pradier, G. Ret, C. Joubert, M. Periquet, F. Araujo, J. Negroni, M. J. Casarejos, S. Canals, R. Solano, A. Serrano, E. Gallego, M. Sanchez, P. Denefle, J. Benavides, G. Tremp, T. A. Rooney, A. Brice, and J. Garcia de Yebenes. Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse. Hum Mol Genet, 12(18):2277-91, 2003. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Alleles, Animals, Base Sequence, Behavior, Animal/*drug effects, Body Temperature/genetics, Body Weight/genetics, Catecholamines/antagonists & inhibitors, Cells, Cultured, Dopamine/*metabolism/pharmacokinetics, Enzyme Inhibitors/pharmacology, Exons, Female, *Gene Silencing, Homozygote, Introns, Male, Mice, Mice, Transgenic, Monoamine Oxidase/metabolism, Neurons/drug effects/metabolism, Neurotransmitter Uptake Inhibitors/*metabolism, Sequence Deletion, Ubiquitin-Protein Ligases/*genetics/metabolism, alpha-Methyltyrosine/pharmacology.



201. I. Le Ber, A. Camuzat, G. Castelnovo, J. P. Azulay, P. Genton, J. L. Gastaut, D. Broglin, P. Labauge, A. Brice, and A. Durr. Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia. Arch Neurol, 60(8):1097-9, 2003. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Brain/pathology, Cerebellar, Ataxia/complications/*epidemiology/*genetics/pathology/physiopathology, Europe/epidemiology, European Continental Ancestry Group, Female, Humans, Male, Middle Aged, Myoclonic Epilepsies,, Progressive/*epidemiology/etiology/*genetics/pathology/physiopathology, Nerve Tissue Proteins/*genetics, Pedigree, Phenotype, Prevalence, Trinucleotide Repeats.



202. I. Le Ber, M. C. Moreira, S. Rivaud-Pechoux, C. Chamayou, F. Ochsner, T. Kuntzer, M. Tardieu, G. Said, M. O. Habert, G. Demarquay, C. Tannier, J. M. Beis, A. Brice, M. Koenig, and A. Durr. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain, 126(Pt 12):2761-72, 2003. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adult, Apraxias/*genetics/pathology/psychology, Cerebellar Ataxia/*genetics/pathology/psychology, Cognition Disorders/etiology, DNA-Binding Proteins/genetics, Disease Progression, Electrooculography, Humans, Magnetic Resonance Imaging, Male, Mutation, Neuropsychological Tests, Nuclear Proteins/genetics, Ocular Motility Disorders/*genetics/pathology/psychology, Phenotype, Sural Nerve/ultrastructure.



203. A. S. Lebre and A. Brice. Spinocerebellar ataxia 7 (SCA7). Cytogenet Genome Res, 100(1-4):154-63, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tReviewSwitzerland. [WWW] Keyword(s): Brain/metabolism/pathology, Disease Progression, Genotype, Nerve Tissue Proteins/*genetics, Phenotype, Spinocerebellar Ataxias/*genetics/pathology, Trinucleotide Repeat Expansion/*genetics.



204. E. Lohmann, M. Periquet, V. Bonifati, N. W. Wood, G. De Michele, A. M. Bonnet, V. Fraix, E. Broussolle, M. W. Horstink, M. Vidailhet, P. Verpillat, T. Gasser, D. Nicholl, H. Teive, S. Raskin, O. Rascol, A. Destee, M. Ruberg, F. Gasparini, G. Meco, Y. Agid, A. Durr, and A. Brice. How much phenotypic variation can be attributed to parkin genotype?. Ann Neurol, 54(2):176-85, 2003. Note: French Parkinson's Disease Genetics Study GroupEuropean Consortium on Genetic Susceptibility in Parkinson's DiseaseNs41723-01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Antiparkinson Agents/therapeutic use, Disease Progression, Exons/genetics, Female, Genotype, Heterozygote, Humans, Levodopa/therapeutic use, Male, Middle Aged, Mutation/genetics, Mutation, Missense/genetics, Parkinson Disease/drug therapy/*genetics/physiopathology, Phenotype, Ubiquitin-Protein Ligases/*genetics, Variation (Genetics)/*genetics.



205. C. B. Lucking and A. Brice. Semiquantitative PCR for the detection of exon rearrangements in the Parkin gene. Methods Mol Biol, 217:13-26, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Chromosome Mapping, *Chromosomes, Human, Pair 6, *Exons, Gene Rearrangement, Humans, Ligases/*genetics, Parkinson Disease/*genetics, Polymerase Chain Reaction/*methods, *Ubiquitin-Protein Ligases.



206. C. B. Lucking, V. Chesneau, E. Lohmann, P. Verpillat, C. Dulac, A. M. Bonnet, F. Gasparini, Y. Agid, A. Durr, and A. Brice. Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease. Arch Neurol, 60(9):1253-6, 2003. Note: R01 ns41723-01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Adult, Age of Onset, Aged, Aged, 80 and over, Female, Genetic Predisposition to Disease, Genotype, Humans, Ligases/*genetics, Male, Middle Aged, Parkinson Disease/epidemiology/*genetics, Polymorphism, Genetic/*genetics, *Ubiquitin-Protein Ligases.



207. R. Nabbout, A. Kozlovski, E. Gennaro, N. Bahi-Buisson, F. Zara, C. Chiron, A. Bianchi, A. Brice, E. Leguern, and O. Dulac. Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. Epilepsy Res, 56(2-3):127-33, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tNetherlands. [WWW] Keyword(s): Child, Preschool, DNA/genetics, Epilepsies, Myoclonic/*genetics, Epilepsy, Generalized/*genetics, Female, Humans, Male, Mutation, Nerve Tissue Proteins/genetics, Polymorphism, Single Nucleotide/genetics, Seizures, Febrile/*genetics, Sodium Channels/genetics, ras Guanine Nucleotide Exchange Factors/*genetics.



208. M. Periquet, M. Latouche, E. Lohmann, N. Rawal, G. De Michele, S. Ricard, H. Teive, V. Fraix, M. Vidailhet, D. Nicholl, P. Barone, N. W. Wood, S. Raskin, J. F. Deleuze, Y. Agid, A. Durr, and A. Brice. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain, 126(Pt 6):1271-8, 2003. Note: French Parkinson's Disease Genetics Study GroupEuropean Consortium on Genetic Susceptibility in Parkinson's DiseaseNs41723-01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.Englanda journal of neurology. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Base Sequence, Child, DNA, Complementary/genetics, Female, *Genetic Predisposition to Disease, Humans, Ligases/*genetics, Male, Middle Aged, Molecular Sequence Data, *Mutation, Parkinsonian Disorders/*genetics, Point Mutation, Polymerase Chain Reaction, *Ubiquitin-Protein Ligases.



209. N. Ravise, O. Dubourg, S. Tardieu, F. Aurias, M. Mercadiel, P. Coullin, M. Ruberg, M. Catala, S. Lesourd, A. Brice, and E. LeGuern. Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies. Am J Med Genet A, 118(1):43-8, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Charcot-Marie-Tooth Disease/diagnosis/genetics, *Chromosome Aberrations, *Chromosomes, Human, Pair 17, Humans, In Situ Hybridization, Fluorescence, Paralysis/genetics, Peripheral Nervous System Diseases/diagnosis/genetics.



210. N. Rawal, M. Periquet, E. Lohmann, C. B. Lucking, H. A. Teive, G. Ambrosio, S. Raskin, S. Lincoln, N. Hattori, J. Guimaraes, M. W. Horstink, W. Dos Santos Bele, E. Brousolle, A. Destee, Y. Mizuno, M. Farrer, J. F. Deleuze, G. De Michele, Y. Agid, A. Durr, and A. Brice. New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism. Neurology, 60(8):1378-81, 2003. Note: French Parkinson's Disease Genetics Study GroupEuropean Consortium on Genetic Susceptibility in Parkinson's Disease1 r01 ns41723â\texteuro``01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Adult, Codon, Nonsense, DNA Mutational Analysis, Exons/genetics, Female, Genes, Recessive, Humans, Male, Middle Aged, Phenotype, Point Mutation, Polymerase Chain Reaction, RNA Splice Sites/genetics, Ubiquitin-Protein Ligases/*genetics.



211. D. Sibbing, F. Asmus, I. R. Konig, S. Tezenas du Montcel, M. Vidailhet, S. Sangla, W. H. Oertel, A. Brice, A. Ziegler, T. Gasser, and O. Bandmann. Candidate gene studies in focal dystonia. Neurology, 61(8):1097-101, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/*genetics, Cystathionine beta-Synthase/genetics, Dystonic Disorders/*genetics, Female, France, Gene Frequency, Genetic Predisposition to Disease, Genotype, Germany, HLA-DR Antigens/*genetics, Haplotypes, Humans, Male, Methylenetetrahydrofolate Reductase (NADPH2)/genetics, Molecular Chaperones/*genetics, Polymerase Chain Reaction, *Polymorphism, Genetic, Receptors, Dopamine D1/*genetics, Receptors, Dopamine D5.



212. G. Stevanin, H. Fujigasaki, A. S. Lebre, A. Camuzat, C. Jeannequin, C. Dode, J. Takahashi, C. San, R. Bellance, A. Brice, and A. Durr. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain, 126(Pt 7):1599-603, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adult, Female, Humans, Huntington Disease/*genetics, Male, Membrane Proteins/*genetics, Middle Aged, Nerve Tissue Proteins/genetics, Phenotype, Polymerase Chain Reaction/methods, Prions/genetics, TATA-Box Binding Protein/*genetics, *Trinucleotide Repeat Expansion.



213. J. Takahashi, H. Fujigasaki, K. Iwabuchi, A. C. Bruni, T. Uchihara, K. H. El Hachimi, G. Stevanin, A. Durr, A. S. Lebre, Y. Trottier, H. de The, J. Tanaka, J. J. Hauw, C. Duyckaerts, and A. Brice. PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases. Neurobiol Dis, 13(3):230-7, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Cell Nucleus/*pathology, Central Nervous System Diseases/metabolism/*pathology, Child, Child, Preschool, Female, Humans, Immunohistochemistry, Inclusion Bodies/*metabolism/pathology, Male, Middle Aged, Mutation, Neoplasm Proteins/*metabolism, Neurons/metabolism/*pathology, *Nuclear Proteins, Peptides/genetics/*metabolism, Transcription Factors/*metabolism, Tumor Suppressor Proteins.



214. C. M. Tallaksen, E. Guichart-Gomez, P. Verpillat, V. Hahn-Barma, M. Ruberg, B. Fontaine, A. Brice, B. Dubois, and A. Durr. Subtle cognitive impairment but no dementia in patients with spastin mutations. Arch Neurol, 60(8):1113-8, 2003. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adenosine Triphosphatases/*genetics, Adolescent, Adult, Age of Onset, Child, Child, Preschool, *Cognition, DNA Mutational Analysis, *Dementia/genetics, Disease Progression, Female, *Heterozygote, Humans, Infant, Male, Middle Aged, Mutation, Neuropsychological Tests, Spastic Paraplegia, Hereditary/genetics/*physiopathology.



215. S. Thobois, M. J. Ribeiro, E. Lohmann, A. Durr, P. Pollak, O. Rascol, S. Guillouet, E. Chapoy, N. Costes, Y. Agid, P. Remy, A. Brice, and E. Broussolle. Young-onset Parkinson disease with and without parkin gene mutations: a fluorodopa F 18 positron emission tomography study. Arch Neurol, 60(5):713-8, 2003. Note: French Parkinson's Disease Genetics Study GroupJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Corpus Striatum/metabolism, Dihydroxyphenylalanine/*analogs & derivatives/diagnostic use, Female, Fluorine Radioisotopes/diagnostic use, Humans, Ligases/*genetics, Male, Middle Aged, Parkinson Disease/*genetics/metabolism/*radionuclide imaging, Severity of Illness Index, Substantia Nigra/metabolism, *Tomography, Emission-Computed, *Ubiquitin-Protein Ligases.

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