1. F. Clot, D. Grabli, C. Cazeneuve, E. Roze, P. Castelnau, B. Chabrol, P. Landrieu, K. Nguyen, G. Ponsot, M. Abada, D. Doummar, P. Damier, R. Gil, S. Thobois, A. J. Ward, M. Hutchinson, A. Toutain, F. Picard, A. Camuzat, E. Fedirko, C. San, D. Bouteiller, E. LeGuern, A. Durr, M. Vidailhet, and A. Brice. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain, 132(Pt 7):1753-63, 2009. Note: French Dystonia NetworkJournal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW]



2. E. Roze, E. Apartis, F. Clot, N. Dorison, S. Thobois, L. Guyant-Marechal, C. Tranchant, P. Damier, D. Doummar, N. Bahi-Buisson, N. Andre-Obadia, D. Maltete, A. Echaniz-Laguna, Y. Pereon, Y. Beaugendre, S. Dupont, T. De Greslan, C. P. Jedynak, G. Ponsot, J. C. Dussaule, A. Brice, A. Durr, and M. Vidailhet. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. Neurology, 70(13):1010-6, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Aged, Brain/metabolism/physiopathology, Child, Child, Preschool, DNA Mutational Analysis, Disease Progression, Dystonia/*diagnosis/*genetics/physiopathology, Electroencephalography, Female, Genetic Markers/genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Genotype, Humans, Male, Middle Aged, Muscle, Skeletal/metabolism/physiopathology, Mutation/genetics, Myoclonus/*diagnosis/*genetics/physiopathology, Prospective Studies, Reflex, Abnormal/genetics, Remission, Spontaneous, Sarcoglycans/*genetics.



3. S. Tezenas du Montcel, F. Clot, M. Vidailhet, E. Roze, P. Damier, C. P. Jedynak, A. Camuzat, A. Lagueny, L. Vercueil, D. Doummar, L. Guyant-Marechal, J. L. Houeto, G. Ponsot, S. Thobois, M. A. Cournelle, A. Durr, F. Durif, B. Echenne, D. Hannequin, C. Tranchant, and A. Brice. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J Med Genet, 43(5):394-400, 2006. Note: French Dystonia NetworkJournal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Adolescent, Adult, Aged, Child, Child, Preschool, Choreatic Disorders/diagnosis/genetics, Chromosomes, Human, Pair 7, Cohort Studies, DNA Mutational Analysis, Dystonic Disorders/*diagnosis/genetics, Female, France, Genetic Screening, Humans, Infant, Male, Middle Aged, Molecular Chaperones/genetics, *Mutation, Myoclonus/*diagnosis/genetics, Phenotype, Sarcoglycans/*genetics, Syndrome.



4. Y. Mikaeloff, S. Suissa, L. Vallee, C. Lubetzki, G. Ponsot, C. Confavreux, and M. Tardieu. First episode of acute CNS inflammatory demyelination in childhood: prognostic factors for multiple sclerosis and disability. J Pediatr, 144(2):246-52, 2004. Note: KIDMUS Study GroupJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Acute Disease, Adolescent, Age of Onset, Central Nervous System Diseases/*complications, Child, Child, Preschool, Cognition Disorders/complications, Cohort Studies, Demyelinating Diseases/*complications, Disability Evaluation, Encephalomyelitis, Acute Disseminated/diagnosis/etiology, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Multiple Sclerosis/diagnosis/etiology, Myelitis, Transverse/complications, Optic Neuritis/complications/diagnosis, Prognosis, Recurrence, Survival Analysis.

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