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. C. Depienne, D. Bouteiller, B. Keren, E. Cheuret, K. Poirier, O. Trouillard, B. Benyahia, C. Quelin, W. Carpentier, S. Julia, A. Afenjar, A. Gautier, F. Rivier, S. Meyer, P. Berquin, M. Helias, I. Py, S. Rivera, N. Bahi-Buisson, I. Gourfinkel-An, C. Cazeneuve, M. Ruberg, A. Brice, R. Nabbout, and E. Leguern. Erratum. PLoS Genet, 5(4), 2009. Note: Journal ArticleUnited States. [WWW]



3. C. Depienne, D. Bouteiller, B. Keren, E. Cheuret, K. Poirier, O. Trouillard, B. Benyahia, C. Quelin, W. Carpentier, S. Julia, A. Afenjar, A. Gautier, F. Rivier, S. Meyer, P. Berquin, M. Helias, I. Py, S. Rivera, N. Bahi-Buisson, I. Gourfinkel-An, C. Cazeneuve, M. Ruberg, A. Brice, R. Nabbout, and E. Leguern. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet, 5(2):e1000381, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



4. C. Depienne, D. Moreno-De-Luca, D. Heron, D. Bouteiller, A. Gennetier, R. Delorme, P. Chaste, J. P. Siffroi, S. Chantot-Bastaraud, B. Benyahia, O. Trouillard, G. Nygren, S. Kopp, M. Johansson, M. Rastam, L. Burglen, E. Leguern, A. Verloes, M. Leboyer, A. Brice, C. Gillberg, and C. Betancur. Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders. Biol Psychiatry, 66(4):349-359, 2009. Note: Journal article. [WWW]



5. C. Depienne, O. Trouillard, C. Saint-Martin, I. Gourfinkel-An, D. Bouteiller, W. Carpentier, B. Keren, B. Abert, A. Gautier, S. Baulac, A. Arzimanoglou, C. Cazeneuve, R. Nabbout, and E. LeGuern. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet, 46(3):183-91, 2009. Note: LetterResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Epilepsies, Myoclonic/*genetics, Female, Gene Deletion, Gene Rearrangement, Humans, Infant, Infant, Newborn, Male, *Mutation, Nerve Tissue Proteins/*genetics, Nucleic Acid Amplification Techniques, Sequence Analysis, DNA, Sodium Channels/*genetics.



6. C. Depienne, O. Trouillard, C. Saint-Martin, I. Gourfinkel-An, D. Bouteiller, W. Carpentier, B. Keren, B. Abert, A. Gautier, S. Baulac, A. Arzimanoglou, C. Cazeneuve, R. Nabbout, and E. LeGuern. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet, 46(3):183-91, 2009. Note: LetterResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Epilepsies, Myoclonic/*genetics, Female, Gene Deletion, Gene Rearrangement, Humans, Infant, Infant, Newborn, Male, *Mutation, Nerve Tissue Proteins/*genetics, Nucleic Acid Amplification Techniques, Sequence Analysis, DNA, Sodium Channels/*genetics.



7. E. Magnin, M. Vidailhet, C. Depienne, C. Saint-Martin, D. Bouteiller, E. Leguern, E. Apartis, L. Rumbach, and P. Labauge. Familial cortical myoclonic tremor with epilepsy (FCMTE): Clinical characteristics and exclusion of linkages to 8q and 2p in a large French family. Rev Neurol (Paris), 165(10):812-820, 2009. Note: Journal article. [WWW]



8. C. Saint-Martin, D. Bouteiller, G. Stevanin, C. Popescu, C. Charon, M. Ruberg, S. Baulac, E. Leguern, P. Labauge, and C. Depienne. Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes. Neurogenetics, 9(1):69-71, 2008. Note: Journal article. [WWW]



9. C. Depienne, D. Heron, C. Betancur, B. Benyahia, O. Trouillard, D. Bouteiller, A. Verloes, E. LeGuern, M. Leboyer, and A. Brice. Autism, language delay and mental retardation in a patient with 7q11 duplication. J Med Genet, 44(7):452-8, 2007. Note: LetterResearch Support, Non-U.S. Gov'tEngland. [WWW]



10. O. Dubourg, H. Azzedine, R. B. Yaou, J. Pouget, A. Barois, V. Meininger, D. Bouteiller, M. Ruberg, A. Brice, and E. LeGuern. The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. Neurology, 66(11):1721-6, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Age of Onset, DNA Mutational Analysis, Family, Female, France/epidemiology, Genetic Predisposition to Disease/epidemiology/genetics, Glycine-tRNA Ligase/*genetics, Heterozygote, Humans, Incidence, Jews/genetics, Muscular Atrophy, Spinal/*epidemiology/*genetics, Mutation, Risk Assessment/*methods, Risk Factors.

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