Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot–Marie–Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE-Reference-Cited by-同舟云学术

Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot–Marie–Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE

Published:2006-01 Issue:1 Volume:16 Page:14-18
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Beauvais Katell,Furby Alain,Latour Philippe

Publisher

Elsevier BV

Subject

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

Reference18 articles.

1. Molecular specializations at nodes and paranodes in peripheral nerve;Scherer;Microsc Res Tech,1996

2. Connexin mutations in X-linked Charcot‐Marie‐Tooth disease;Bergoffen;Science,1993

3. Linkage localisation of X-linked Charcot-Marie-tooth disease;Bergoffen;Am J Hum Genet,1993

4. Connexin32 is a myelin-related protein in the PNS and CNS;Scherer;J Neurosci,1995

5. The human connexin32 gene is transcribed from two tissue-specific promoters;Neuhaus;Biosci Rep,1996

Cited by 21 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. Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system;Experimental Neurology;2023-02

2. Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease;Journal of Translational Genetics and Genomics;2022

3. New evidence for secondary axonal degeneration in demyelinating neuropathies;Neuroscience Letters;2021-01

4. Novel EGR2 variant that associates with Charcot-Marie-Tooth disease when combined with lipopolysaccharide-induced TNF-α factor T49M polymorphism;Neurology Genetics;2020-03-03

5. Diseases of connexins expressed in myelinating glia;Neuroscience Letters;2019-03