1. A. Chojnowski, N. Ravise, C. Bachelin, C. Depienne, M. Ruberg, B. Brugg, J. Laporte, A. Baron-Van Evercooren, and E. LeGuern. Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells. Neurobiol Dis, 26(2):323-31, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Animals, Animals, Newborn, Apoptosis/drug effects/genetics, Caspases/metabolism, Cell Death/drug effects/genetics, Cell Proliferation, Cells, Cultured, Charcot-Marie-Tooth Disease/*genetics/metabolism/physiopathology, Culture Media, Serum-Free/pharmacology, Down-Regulation/drug effects/genetics, Gene Expression Profiling, Gene Expression Regulation, Developmental/genetics, *Gene Silencing, Myelin Sheath/*genetics/metabolism/pathology, Peripheral Nerves/*metabolism/pathology/physiopathology, Protein Tyrosine Phosphatases/*genetics, Protein Tyrosine Phosphatases, Non-Receptor, RNA Interference, Rats, Schwann Cells/*metabolism/pathology.



2. 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.



3. 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.



4. 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.

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