GDAP1 mutations in Italian axonal Charcot–Marie–Tooth patients: Phenotypic features and clinical course-Reference-Cited by-同舟云学术

GDAP1 mutations in Italian axonal Charcot–Marie–Tooth patients: Phenotypic features and clinical course

Published:2016-01 Issue:1 Volume:26 Page:26-32
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Pezzini I.,Geroldi A.,Capponi S.,Gulli R.,Schenone A.,Grandis M.,Doria-Lamba L.,La Piana C.,Cremonte M.,Pisciotta C.,Nolano M.,Manganelli F.,Santoro L.,Mandich P.,Bellone E.

Funder

CMT

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference21 articles.

1. Recent advances in Charcot-Marie-Tooth disease;Baets;Curr Opin Neurol,2014

2. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease;Cuesta;Nat Genet,2002

3. Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene;Birouk;Arch Neurol,2003

4. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21;Baxter;Nat Genet,2002

5. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy;Nelis;Neurology,2002

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1. Genetic and clinical profile of 15 Chinese families with GDAP1‐related Charcot–Marie–Tooth disease and identification of H256R as a frequent mutation;Journal of the Peripheral Nervous System;2024-05-05

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4. Autosomal dominant GDAP1 mutation with severe phenotype and respiratory involvement: A case report;Frontiers in Neurology;2022-10-24

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