1. C. Huze, S. Bauche, P. Richard, F. Chevessier, E. Goillot, K. Gaudon, A. Ben Ammar, A. Chaboud, I. Grosjean, H. A. Lecuyer, V. Bernard, A. Rouche, N. Alexandri, T. Kuntzer, M. Fardeau, E. Fournier, A. Brancaccio, M. A. Ruegg, J. Koenig, B. Eymard, L. Schaeffer, and D. Hantai. Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. Am J Hum Genet, 85(2):155-67, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



2. P. Michel, D. Sternberg, P. Y. Jeannet, M. Dunand, F. Thonney, W. Kress, B. Fontaine, E. Fournier, and T. Kuntzer. Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders. Muscle Nerve, 2007. Note: Journal article. [WWW]



3. F. Ochsner, I. Le Ber, G. Said, M. C. Moreira, P. Michel, M. Koenig, A. Durr, A. Brice, and T. Kuntzer. [Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia]. Rev Neurol (Paris), 161(3):331-6, 2005. Note: Case ReportsEnglish AbstractJournal ArticleFrance. [WWW] Keyword(s): Brain/pathology, Cerebellar Ataxia/*genetics/pathology, Charcot-Marie-Tooth Disease/*genetics/pathology, DNA-Binding Proteins/*genetics, Humans, Infant, Magnetic Resonance Imaging, Male, Nuclear Proteins/*genetics, Phenotype, Sural Nerve/pathology.



4. S. Vicart, D. Sternberg, E. Fournier, F. Ochsner, P. Laforet, T. Kuntzer, B. Eymard, B. Hainque, and B. Fontaine. New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. Neurology, 63(11):2120-7, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Acetazolamide/therapeutic use, Action Potentials, Adolescent, Adrenal Cortex Hormones/adverse effects, Adult, *Amino Acid Substitution, Child, Preschool, Codon/*genetics, DNA Mutational Analysis, Electromyography, Exercise Test, Female, Humans, Hypokalemic Periodic Paralysis/blood/drug therapy/etiology/*genetics, Infant, Male, *Mutation, Missense, Pedigree, *Point Mutation, Potassium/blood, Potassium Chloride/diagnostic use, Sodium Channels/deficiency/*genetics, Thyrotoxicosis/complications.



5. I. Le Ber, M. C. Moreira, S. Rivaud-Pechoux, C. Chamayou, F. Ochsner, T. Kuntzer, M. Tardieu, G. Said, M. O. Habert, G. Demarquay, C. Tannier, J. M. Beis, A. Brice, M. Koenig, and A. Durr. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain, 126(Pt 12):2761-72, 2003. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adult, Apraxias/*genetics/pathology/psychology, Cerebellar Ataxia/*genetics/pathology/psychology, Cognition Disorders/etiology, DNA-Binding Proteins/genetics, Disease Progression, Electrooculography, Humans, Magnetic Resonance Imaging, Male, Mutation, Neuropsychological Tests, Nuclear Proteins/genetics, Ocular Motility Disorders/*genetics/pathology/psychology, Phenotype, Sural Nerve/ultrastructure.

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