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Annals of Neurology|June 1, 1996
Ultrastructural PMP22 expression in inherited demyelinating neuropathiesJ M Vallat, P Sindou, P M Preux, et al.
Brain : a Journal of Neurology|September 26, 2001
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth diseaseO Dubourg, S Tardieu, N Birouk, et al.
Neuromuscular Disorders : NMD|June 19, 2001
The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocityO Dubourg, S Tardieu, N Birouk, et al.
Glia|June 29, 1999
Edg-2 in myelin-forming cells: isoforms, genomic mapping, and exclusion in Charcot-Marie-Tooth diseaseJ Allard, S Barron, S Trottier, et al.
American Journal of Human Genetics|June 1, 1996
Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research GroupJ Lopes, E LeGuern, R Gouider, et al.
BMJ Case Reports|June 21, 2011
Autism, language delay and mental retardation in a patient with 7q11 duplicationC Depienne, D Heron, C Betancur, et al.
Human Molecular Genetics|January 1, 1996
A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?E LeGuern, R Gouider, N Ravisé, et al.
Neurology|December 1, 1994
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entitiesR Gouider, E LeGuern, J Emile, et al.
Journal of Medical Genetics|April 3, 2007
Autism, language delay and mental retardation in a patient with 7q11 duplicationC Depienne, D Heron, C Betancur, et al.
Annals of Neurology|June 21, 2001
Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31S Baulac, F Picard, A Herman, et al.
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