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

Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects

15 Nov 2023

Abstract excerpt

INTRODUCTION: Mutations in GDAP1 (Ganglioside-induced differentiation-associated protein 1) gene are linked to Charcot-Marie-Tooth disease (CMT), a Heterogenous group of disorders with multiple phenotypes, characterized by peripheral nerve dysfunction that can lead to vocal cord paralysis and diaphragmatic dysfunction. MAIN BODY: All three affected children of this chosen family have manifested the same clinical...

Read the complete abstract on PubMed

Topics

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

Share to Caveolin-1 and cellular processes
Share to Hereditary Neurological Disorders
Share to Peripheral Neuropathies and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37966693
DOI: 10.1186/s43141-023-00568-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effectsPMID 37966693Read ↗

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.Semantic proximity Read ↗

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.Semantic proximity Read ↗

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysisSemantic proximity Read ↗

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.Semantic proximity Read ↗

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.Semantic proximity Read ↗

Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.Semantic proximity Read ↗

Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth DiseaseSemantic proximity Read ↗

Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.Semantic proximity Read ↗

Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.Semantic proximity Read ↗

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.Semantic proximity Read ↗

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