Associated Papers
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
41100445 (PubMed )
Supplement: pgen.1011876.s002.pdf
A Novel Missense Mutation in SLC12A6 Impairs Ion Transport Function of the Protein to Cause Agenesis of the Corpus Callosum With Peripheral Neuropathy.
Ahmad SR et al.
Clinical Genetics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S11_FC_Founder_variants_
A role for KCC3 in maintaining cell volume of peripheral nerve fibers.
Flores B et al.
Neurochemistry International, 2019
Mutations affecting GABAergic signaling in seizures and epilepsy.
Galanopoulou AS
Pflugers Archiv : European Journal of Physiology, 2010
Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.
Dupré N et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2006
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
Dupré N et al.
Annals of Neurology, 2003
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Howard HC et al.
Nature Genetics, 2002
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