Leukoencephalopathy and conduction blocks in PLEKHG5-associated intermediate CMT disease-Reference-Cited by-同舟云学术

Leukoencephalopathy and conduction blocks in PLEKHG5-associated intermediate CMT disease

Published:2021-08 Issue:8 Volume:31 Page:756-764
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Villar-Quiles Rocio-Nur,Le Van Thuy,Leonard-Louis Sarah,Trang Nguyen Thi,Huong Nguyen Thi,Laddada Lilia,Francou Bruno,Maisonobe Thierry,Azzedine Hamid,Stojkovic Tanya

Publisher

Elsevier BV

Subject

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

Reference41 articles.

1. Charcot-marie-Tooth disease and related disorders: an evolving landscape;Laurá;Curr Opin Neurol,2019

2. Charcot-marie-tooth disease: frequency of genetic subtypes and guidelines for genetic testing;Murphy;J Neurol Neurosurg Psychiatry,2012

3. The nuclear factor κB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset;Maystadt;Am J Hum Genet,2007

4. pLEKHG5 deficiency leads to an intermediate form of autosomal-recessive charcot-marie-tooth disease;Azzedine;Hum Mol Genet,2013

5. Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate charcot-marie-tooth disease;Kim;Orphanet J Rare Dis,2013

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1. A novel missense mutation in PLEKHG5 gene causing an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease in an Iraqi family;Egyptian Journal of Medical Human Genetics;2023-03-20

2. A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans;Orphanet Journal of Rare Diseases;2022-03-24

3. [CASE REPORT] Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: a case report;Journal of Neuromuscular Diseases;2021-12-05