1. 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.



2. 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]



3. 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.



4. 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.



5. 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.



6. 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]



7. 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.



8. 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.



9. A. C. Bruni, J. Takahashi-Fujigasaki, F. Maltecca, J. F. Foncin, A. Servadio, G. Casari, P. D'Adamo, R. Maletta, S. A. Curcio, G. De Michele, A. Filla, K. H. El Hachimi, and C. Duyckaerts. Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation. Arch Neurol, 61(8):1314-20, 2004. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Aged, Behavioral Symptoms/genetics/pathology/psychology, Brain/pathology, Dementia/*genetics/pathology/psychology, Female, Humans, Male, Middle Aged, Muscle Rigidity/*genetics/pathology/psychology, *Mutation, Pedigree, Spinocerebellar Ataxias/*genetics/pathology/psychology, TATA-Box Binding Protein/*genetics.



10. 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.



11. 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.



12. 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.



13. 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.



14. 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.



15. 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.

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