Confounding clinical presentation and different disease progression in CMT4B1-Reference-Cited by-同舟云学术

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Confounding clinical presentation and different disease progression in CMT4B1

Published:2020-07 Issue:7 Volume:30 Page:576-582
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Guimarães-Costa Raquel,Villar-Quiles Rocio-Nur,Latour Philippe,Sole Guilhem,Husson Isabelle,Lacour Arnaud,Leonard-Louis Sarah,Stojkovic Tanya

Publisher

Elsevier BV

Subject

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

Reference28 articles.

1. The various Charcot-Marie-Tooth diseases;Vallat;Curr Opin Neurol,2013

2. Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges;Pipis;Nat Rev Neurol,2019

3. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2;Bolino;Nat Genet,2000

4. Hereditary demyelinating neuropathy of infancy: a genetically complex syndrome;Gambardella;Brain,1997

5. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing;Murphy;J Neurol Neurosurg Psychiatry,2012

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot–Marie–Tooth Disease Type 4B1;The Application of Clinical Genetics;2024-05

2. Rare among Rare: Phenotypes of Uncommon CMT Genotypes;Brain Sciences;2021-12-08

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