1. 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.



2. 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.



3. 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.



4. 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.



5. 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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