1. 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.



2. 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.



3. 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.



4. 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.

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