Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

Annals of neurology - 1 Jul 2003

Dupré Nicolas, Howard Heidi C, Mathieu Jean, Karpati George, Vanasse Michel, Bouchard Jean-Pierre, Carpenter Stirling, Rouleau Guy A

Abstract excerpt

Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (OMIM 218000) is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia, a variable degree of agenesis of the c...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Agenesis of Corpus Callosum
Share to Electromyography
Share to Hereditary Sensory and Motor Neuropathy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Hypotonia

Share to Neural Conduction

Share to Quebec

Share to Reflex, Abnormal

Share to Symporters

Source

Identifiers

PMID: 12838516
DOI: 10.1002/ana.77777

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12838516-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.PMID 12838516Read ↗

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.Semantic proximity Read ↗

Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy.Semantic proximity Read ↗

Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.Semantic proximity Read ↗

A role for KCC3 in maintaining cell volume of peripheral nerve fibersSemantic proximity Read ↗

KCC3 axonopathy: neuropathological features in the central and peripheral nervous system.Semantic proximity Read ↗

Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy.Semantic proximity Read ↗

Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.Semantic proximity Read ↗

A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?Semantic proximity Read ↗

Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephalySemantic proximity Read ↗

Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report.Semantic proximity Read ↗

Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype.Semantic proximity Read ↗

Andermann syndrome in a Turkish patient.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.