Literature DB >> 27428488

A first case report of HINT1-related axonal neuropathy with neuromyotonia in a Greek family.

Dimitra Veltsista1, Elisabeth Chroni2.   

Abstract

Entities:  

Keywords:  HINT1-related neuropathy; Hereditary neuropathy; Motor neuropathy; Neuromyotonia

Mesh：

Substances：

Year:  2016        PMID： 27428488     DOI： 10.1016/j.clineuro.2016.07.012

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN： 0303-8467            Impact factor:   1.876


× No keyword cloud information.
  3 in total

1.  Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.

Authors:  Shan Lin; Liu-Qing Xu; Guo-Rong Xu; Ling-Ling Guo; Bi-Juan Lin; Wan-Jin Chen; Ning Wang; Yi Lin; Jin He
Journal:  Neurogenetics       Date:  2019-12-12       Impact factor: 2.660

Review 2.  Axonal neuropathy with neuromyotonia: there is a HINT.

Authors:  Kristien Peeters; Teodora Chamova; Ivailo Tournev; Albena Jordanova
Journal:  Brain       Date:  2017-04-01       Impact factor: 13.501

3.  HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.

Authors:  Bianca de Aguiar Coelho Silva Madeiro; Kristien Peeters; Elker Lene Santos de Lima; Silvia Amor-Barris; Els De Vriendt; Albena Jordanova; Maria Tereza Cartaxo Muniz; Carolina da Cunha Correia
Journal:  Mol Genet Genomic Med       Date:  2021-09-25       Impact factor: 2.183
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.