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

[SORD-related hereditary neuropathies].

Medecine sciences : M/S - 1 Nov 2021

Fernández-Eulate Gorka, Bruneel Arnaud, Stojkovic Tanya

Abstract excerpt

Mutations in the SORD gene have recently been identified as a cause of autosomal Charcot-Marie-Tooth disease as well as the underlying defect in some cases of hereditary distal motoneuronopathies. Patients may be amenable to therapies in a near future.

Read the complete abstract on PubMed

Topics

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

Share to Charcot-Marie-Tooth Disease
Share to Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 34878391
DOI: 10.1051/medsci/2021188

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[SORD-related hereditary neuropathies].PMID 34878391Read ↗

Hereditary motor neuropathies.Semantic proximity Read ↗

SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.Semantic proximity Read ↗

Clinical and pathological study of SORD-related distal motor neuropathy caused by novel compound heterozygous mutations in a Chinese patient.Semantic proximity Read ↗

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesSemantic proximity Read ↗

A novel mutation in SORD gene associated with distal hereditary motor neuropathies.Semantic proximity Read ↗

Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.Semantic proximity Read ↗

Motor Neuron Dysfunction in SORD Deficiency: Implications for Therapeutic Development in Peripheral NeuropathiesSemantic proximity Read ↗

Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insightsSemantic proximity Read ↗

Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.Semantic proximity Read ↗

Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.Semantic proximity Read ↗

SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.Semantic proximity Read ↗

A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.Semantic proximity Read ↗

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