Paramyotonia congenita: From clinical diagnosis toin silicoprotein modeling analysis-Reference-Cited by-同舟云学术

Paramyotonia congenita: From clinical diagnosis toin silicoprotein modeling analysis

Published:2012-07-10 Issue:5 Volume:54 Page:602-612
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:

Author:

Nurputra Dian K.,Nakagawa Taku,Takeshima Yasuhiro,Harahap Indra S.K.,Morikawa Satoru,Sakaeda Toshiyuki,Lai Poh San,Matsuo Masafumi,Takaoka Yutaka,Nishio Hisahide

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1442-200X.2012.03646.x/fullpdf

Reference33 articles.

1. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment;Matthews;Brain,2010

2. Ȕber eine familiäre, durch sechs Generationen verfolgbare Form congenitaler Paramyotonie;Eulenburg;Neurologisches Centralblatt,1886

3. Paralysis periodica paramyotonia caused by SCN4A Arg1448Cys mutation;Hsu;J. Formos. Med. Assoc.,2006

4. Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile);Koch;Neuroreport,1995

5. Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene;Plassart;J. Neurol. Sci.,1996

Cited by 7 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. A Paramyotonia Congenita Family with an R1448H Mutation in SCN4A;Annals of Child Neurology;2022-10-01

2. Kinetic Alterations in Resurgent Sodium Currents of Mutant Nav1.4 Channel in Two Patients Affected by Paramyotonia Congenita;Biology;2022-04-18

3. Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita;Biomedicines;2021-01-08

4. Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review;Journal of Neuromuscular Diseases;2020-03-20

5. Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families;Biomedical Papers;2019-12-11