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Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.
Yiu EM, Ryan MM. Yiu EM, et al. J Peripher Nerv Syst. 2012 Sep;17(3):285-300. doi: 10.1111/j.1529-8027.2012.00412.x. J Peripher Nerv Syst. 2012. PMID: 22971091 Review.
We review the axonal Charcot-Marie-Tooth subtypes with onset in infancy, spinal muscular atrophy, and related syndromes of early infancy, giant axonal neuropathy, infantile neuroaxonal dystrophy, hereditary motor and sensory neuropathy with agenesis of the …
We review the axonal Charcot-Marie-Tooth subtypes with onset in infancy, spinal muscular atrophy, and related syndromes of early infancy, gi …
A role for KCC3 in maintaining cell volume of peripheral nerve fibers.
Flores B, Schornak CC, Delpire E. Flores B, et al. Neurochem Int. 2019 Feb;123:114-124. doi: 10.1016/j.neuint.2018.01.009. Epub 2018 Jan 31. Neurochem Int. 2019. PMID: 29366908 Free PMC article. Review.
A loss-of-function (LOF) of KCC3 causes Hereditary Motor Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC) in a population of individuals in the Charlevoix/Lac-Saint-Jean region of Quebec, Canada. ...Though this KCC3 LOF in mouse model …
A loss-of-function (LOF) of KCC3 causes Hereditary Motor Sensory Neuropathy with Agenesis of the Corpus Callosum …
Population history and its impact on medical genetics in Quebec.
Laberge AM, Michaud J, Richter A, Lemyre E, Lambert M, Brais B, Mitchell GA. Laberge AM, et al. Clin Genet. 2005 Oct;68(4):287-301. doi: 10.1111/j.1399-0004.2005.00497.x. Clin Genet. 2005. PMID: 16143014 Review.
Some were discovered in French Canadians, such as autosomal recessive ataxia of the Charlevoix-Saguenay (MIM 270550), agenesis of corpus callosum and peripheral neuropathy (MIM 218000) and French-Canadian-type Leigh syndrome (MIM 220111). Other …
Some were discovered in French Canadians, such as autosomal recessive ataxia of the Charlevoix-Saguenay (MIM 270550), agenesis of …