GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease-Reference-Cited by-同舟云学术

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease

Published:2021-06 Issue:6 Volume:31 Page:505-511
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Figueiredo Fernanda Barbosa,Silva Wilson Araújo,Giuliatti Silvana,Tomaselli Pedro José,Lourenço Charles Marques,Gouvêa Silmara de Paula,Covaleski Anna Paula Paranhos Miranda,Hallak Jaime E.,Marques Wilson

Publisher

Elsevier BV

Subject

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

Reference51 articles.

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3. Mitochondrial dysfunction and pathophysiology of Charcot–Marie–Tooth disease involving GDAP1 mutations;Cassereau;Exp Neurol,2011

4. A role for the GDAP1 gene in the molecular pathogenesis of Charcot-Marie-Tooth disease;Rzepnikowska;Acta Neurobiol Exp (Wars),2018

5. Mitochondrial fusion/fission dynamics in neurodegeneration and neuronal plasticity;Bertholet;Neurobiol Dis,2016

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1. Biallelic variants inCOX18cause a mitochondrial disorder primarily manifesting as peripheral neuropathy;2024-07-04

2. Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children;Journal of the Peripheral Nervous System;2024-02-20

3. Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives;Arquivos de Neuro-Psiquiatria;2023-08-23

4. Structural insights into Charcot–Marie–Tooth disease‐linked mutations in human GDAP1;FEBS Open Bio;2022-05-20

5. Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1;2022-02-18