Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes-Reference-Cited by-同舟云学术

Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes

Published:2011-08 Issue:8 Volume:21 Page:543-550
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Nouioua Sonia,Hamadouche Tarik,Funalot Benoit,Bernard Rafaëlle,Bellatache Nora,Bouderba Radia,Grid Djamel,Assami Salima,Benhassine Traki,Levy Nicolas,Vallat Jean-Michel,Tazir Meriem

Publisher

Elsevier BV

Subject

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

Reference26 articles.

1. Autosomal recessive forms of hereditary motor and sensory neuropathy;Harding;J Neurol Neurosurg Psychiatry,1980

2. Autosomal-recessive Charcot-Marie-Tooth diseases;Vallat;J Neuropathol Exp Neurol,2005

3. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family;Quattrone;Neurology,1996

4. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing;Bolino;Hum Mol Genet,1996

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

Cited by 22 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. Conduction slowing, conduction block and temporal dispersion in demyelinating, dysmyelinating and axonal neuropathies: Electrophysiology meets pathology;Journal of the Peripheral Nervous System;2024-04-10

3. Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects;Journal of Genetic Engineering and Biotechnology;2023-12

4. Current profile of Charcot‐Marie‐Tooth disease in Africa: A systematic review;Journal of the Peripheral Nervous System;2022-04-05

5. 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