LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2-Reference-Cited by-同舟云学术

LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2

Published:2019-04-17 Issue:9 Volume:27 Page:1406-1418
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Peretti Alessia^ORCID,Perie Maud,Vincent Didier,Bouhour Françoise,Dieterich Klaus,Mallaret Martial,Duval Fanny,Goizet Cyril,Juntas-Morales Raul,Magy Laurent,Solé Guilhem^ORCID,Nollet Sylvain,Not Adeline,Léonard-Louis Sarah,Francou Bruno^ORCID,Leguern Eric,Lia Anne-Sophie,Magdelaine Corinne,Latour Philippe,Stojkovic Tanya

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-019-0403-8.pdf

Reference26 articles.

1. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet. 1974;6:98–118.

2. Pareyson D, Marchesi CDiagnosis. natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol. 2009;8:654–67.

3. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain. 1980;103:259–80.

4. Berciano J, García A, Gallardo E, Peeters K, Pelayo-Negro AL, Álvarez-Paradelo S, et al. Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. J Neurol. 2017;264:1655–77.

5. Pisciotta C, Shy ME. Neuropathy. Neuromolecular Med. 2018;148:653–65.

Cited by 5 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. Gene Repair of iPSC Line with GARS (G294R) Mutation of CMT2D Disease by CRISPR/Cas9;Current Medical Science;2023-03-18

2. C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model;Scientific Reports;2022-07-16

3. LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond;Orphanet Journal of Rare Diseases;2021-02-10

4. Location matters – Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P;Neuromuscular Disorders;2021-02

5. Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease;Journal of Human Genetics;2019-12-18