Associated Papers
Using the ancestral recombination graph to study the history of rare variants in founder populations.
Mejia-Garcia A et al.
American Journal of Human Genetics, 2025
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
Temporal manipulation of KCC3 expression in juvenile or adult mice suggests irreversible developmental deficit in hereditary motor sensory neuropathy with agenesis of the corpus callosum.
Flores B et al.
American Journal of Physiology. Cell Physiology, 2021
A role for KCC3 in maintaining cell volume of peripheral nerve fibers.
Flores B et al.
Neurochemistry International, 2019
Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics: Analysis of 30,769 Genotypes.
Blais J et al.
The Journal of Molecular Diagnostics : Jmd, 2015
Mutations affecting GABAergic signaling in seizures and epilepsy.
Galanopoulou AS
Pflugers Archiv : European Journal of Physiology, 2010
HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.
Salin-Cantegrel A et al.
Human Molecular Genetics, 2008
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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