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Neurology|April 25, 2007
New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18pR Nabbout, S Baulac, I Desguerre, et al.Journal of Neurology, Neurosurgery, and Psychiatry|April 21, 1999
Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33A Gabreëls-Festen, S van Beersum, L Eshuis, et al.Neuromuscular Disorders : NMD|July 19, 2003
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 geneH Azzedine, M Ruberg, D Ente, et al.Neurology|May 5, 1999
Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletionP Mouton, S Tardieu, R Gouider, et al.Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|September 3, 2008
K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsyJ El Helou, V Navarro, C Depienne, et al.Human Molecular Genetics|November 5, 1999
Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPPJ Lopes, S Tardieu, K Silander, et al.Muscle & Nerve|September 1, 1997
Recurrent polyradiculoneuropathy with the 17p11.2 deletionN Le Forestier, E LeGuern, P Coullin, et al.Journal of Medical Genetics|June 1, 1997
SMN gene analysis of the spinal form of Charcot-Marie-Tooth diseaseA Hanash, E Leguern, N Birouk, et al.Revue Neurologique|July 21, 2009
Familial cortical myoclonic tremor with epilepsy (FCMTE): Clinical characteristics and exclusion of linkages to 8q and 2p in a large French familyE Magnin, M Vidailhet, C Depienne, et al.American Journal of Human Genetics|September 16, 1999
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33S Baulac, I Gourfinkel-An, F Picard, et al.Pageof 7