1. 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.



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. 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.



3. 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]



4. 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]



5. C. Globas, S. T. du Montcel, L. Baliko, S. Boesch, C. Depondt, S. DiDonato, A. Durr, A. Filla, T. Klockgether, C. Mariotti, B. Melegh, M. Rakowicz, P. Ribai, R. Rola, T. Schmitz-Hubsch, S. Szymanski, D. Timmann, B. P. Van de Warrenburg, P. Bauer, and L. Schols. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord, 23(15):2232-8, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited Statesofficial journal of the Movement Disorder Society. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, Calcium Channels/genetics, DNA Mutational Analysis, Female, Gait Disorders, Neurologic/complications, Humans, Linear Models, Male, Middle Aged, Nerve Tissue Proteins/genetics, Nuclear Proteins/genetics, Repressor Proteins/genetics, *Spinocerebellar Ataxias/classification/complications/genetics, Trinucleotide Repeat Expansion/*genetics, Young Adult.



6. 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]



7. 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]



8. 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.



9. 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]



10. 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.



11. 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.



12. 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.

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