Disease: Corpus callosum agenesis neuronopathy
- <em>De novo</em> variants in <em>SLC12A6</em> cause sporadic early-onset progressive sensorimotor neuropathy
- A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?
- A new splice-site mutation in <em>SLC12A6</em> causing Andermann syndrome with motor neuronopathy
- Agenesis of the Corpus Callosum Due to Defective Glial Wedge Formation in Lhx2 Mutant Mice
- Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2
- Deletion of KCC3 in parvalbumin neurons leads to locomotor deficit in a conditional mouse model of peripheral neuropathy associated with agenesis of the corpus callosum
- Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome
- Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean
- First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene
- Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset
- Identification of a novel <em>SLC12A6</em> pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family
- KCC3 axonopathy: neuropathological features in the central and peripheral nervous system
- KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects
- Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy
- Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy
- Report of Two Siblings with Andermann Syndrome
- 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
- The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy