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Neurology|April 1, 2009
Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutationsK Vahedi, C Depienne, D Le Fort, et al.Human Molecular Genetics|February 28, 1998
Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombinationJ Lopes, N Ravisé, A Vandenberghe, et al.American Journal of Human Genetics|April 11, 2003
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucomaH Azzedine, A Bolino, T Taïeb, et al.Neuromolecular Medicine|June 16, 2006
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth diseaseO Dubourg, H Azzedine, C Verny, et al.Journal of Medical Genetics|October 22, 2008
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patientsC Depienne, O Trouillard, C Saint-Martin, et al.Epilepsy Research|July 21, 2001
Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JMET Moore, S Hecquet, A McLellann, et al.Neuromuscular Disorders : NMD|March 11, 2000
Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entityM A Salih, T Maisonobe, M Kabiraj, et al.Brain : a Journal of Neurology|May 29, 2000
Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European familiesF Picard, S Baulac, P Kahane, et al.Nature Genetics|May 10, 2000
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2A Bolino, M Muglia, F L Conforti, et al.Genomics|February 16, 2000
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22A Bolino, E R Levy, M Muglia, et al.Pageof 7