Syndrome de Dejerine-Sottas
... hereditary motor and sensory neuropathy type III) », Nat. Genet., vol. 5, no 3, novembre 1993, p. 266-8. (PMID 7506095, DOI ... ou hereditary motor and sensory polyneuropathy type III, ou maladie de Charcot-Marie-Tooth de type 3), est une maladie ... EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy », Neurogenetics, vol. 3, no 3, juillet 2001, p. 153-7. ( ...
Syndrome d'Andermann
en) Nicolas Dupré, Heidi C Howard, Guy A Rouleau, Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum ... Le syndrome d'Andermann est une maladie neurodégénérative qui se manifeste au cours de l'enfance par de sévères neuropathies ...
Maladies héréditaires récessives au Québec
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum: Motor and Hereditary Polyneuropathy », Annals of ...
RAB7A
Hereditary sensory neuropathy type I », Orphanet Journal of Rare Diseases, vol. 3, no 7, mars 2008, p. 7 (PMID 18348718, PMCID ... Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments ... Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy », American Journal of ... Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila », Neurobiology of Disease, vol. 65 ...