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European Journal of Human Genetics : EJHG|December 22, 1999
Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1A Guilbot, N Ravisé, A Bouhouche, et al.Neurology|June 16, 2010
Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5pC Depienne, E Magnin, D Bouteiller, et al.American Journal of Human Genetics|August 12, 1999
A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3A Bouhouche, A Benomar, N Birouk, et al.European Journal of Neurology|July 14, 2012
Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormalityN Collongues, C Depienne, N Boehm, et al.Journal of Neural Transmission (Vienna, Austria : 1996)|January 1, 1996
Glial cell line-derived neurotrophic factor (GDNF) gene expression in the human brain: a post mortem in situ hybridization study with special reference to Parkinson's diseaseS Hunot, V Bernard, B Faucheux, et al.Brain : a Journal of Neurology|November 11, 2003
Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/CM Tazir, H Azzedine, S Assami, et al.Human Mutation|January 1, 1997
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 familiesH Rouger, E LeGuern, N Birouk, et al.Neurology|May 5, 1998
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic studyN Birouk, E LeGuern, T Maisonobe, et al.Neurology|March 27, 2002
Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME)P Labauge, L O Amer, M Simonetta-Moreau, et al.Human Molecular Genetics|February 7, 2001
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth diseaseA Guilbot, A Williams, N Ravisé, et al.Pageof 7