Literature DB >> 35316520

An axonal Charcot-Marie-Tooth disease associated with a homozygous GDAP1 gene mutation in two siblings from Bangladesh: a less severe phenotype.

Catarina Correia Rodrigues1, Miguel Oliveira Santos2,3.   

Abstract

Entities:  

Mesh：

Year:  2022        PMID： 35316520     DOI： 10.1007/s13760-022-01884-6

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.396


× No keyword cloud information.
  5 in total

1.  Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease.

Authors:  Phuong-Thao Mai; Dong-Truc Le; Tan-Trung Nguyen; Hoang-Linh Le Gia; Trung-Hieu Nguyen Le; Minh Le; Duc-Minh Do
Journal:  Biomed Res Int       Date:  2019-04-24       Impact factor: 3.411

2.  Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations.

Authors:  Pukar Singh Pakhrin; Yongzhi Xie; Zhengmao Hu; Xiaobo Li; Lei Liu; Shunxiang Huang; Binghao Wang; Zihan Yang; Jiejun Zhang; Xin Liu; Kun Xia; Beisha Tang; Ruxu Zhang
Journal:  J Neurol       Date:  2018-01-25       Impact factor: 4.849

3.  Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.

Authors:  E Nelis; S Erdem; P Y K Van Den Bergh; M-C Belpaire-Dethiou; C Ceuterick; V Van Gerwen; A Cuesta; L Pedrola; F Palau; A A W M Gabreëls-Festen; C Verellen; E Tan; M Demirci; C Van Broeckhoven; P De Jonghe; H Topaloglu; V Timmerman
Journal:  Neurology       Date:  2002-12-24       Impact factor: 9.910

4.  A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

Authors:  Julien Cassereau; Arnaud Chevrollier; Dominique Bonneau; Christophe Verny; Vincent Procaccio; Pascal Reynier; Marc Ferré
Journal:  Orphanet J Rare Dis       Date:  2011-12-26       Impact factor: 4.123

5.  Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations.

Authors:  Hyun Su Kim; Hye Jin Kim; Soo Hyun Nam; Sang Beom Kim; Yu Jin Choi; Kyung Suk Lee; Ki Wha Chung; Young Cheol Yoon; Byung Ok Choi
Journal:  J Clin Neurol       Date:  2021-01       Impact factor: 3.077
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.