Sage Journals: Discover world-class research

Open access

Research article

First published 2020-9

Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing

XinYu Tan, SongNian Hu, Zongyu Xie [...]

Journal of International Medical Research

Retricted access

Research article

First published 2004-03

Absence of Ion Channels CACN1AS and SCN4A Mutations in Thyrotoxic Hypokalemic Periodic Paralysis

W. Y. Ng, K. F. Lui, A. C. Thai [...]

Thyroid®

Free access

Research article

First published 2019

A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy,Myotonia and Multiple Congenital Anomalies

Megan Waldrop, Jakkrit Amornvit, Christopher R. Pierson [...]

Journal of Neuromuscular Diseases

Free access

Case report

First published

A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia

Kristin Ørstavik, Sean Ciaran Wallace, Torberg Torbergsen [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2024-04-30

A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia

Carmen Campanale, Paola Laghetti, Ilaria Saltarella [...]

Journal of Neuromuscular Diseases

Free access

Case report

First published 2020

Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review

Tomoya Taminato, Madoka Mori-Yoshimura, Jun Miki [...]

Journal of Neuromuscular Diseases

Open access

Article commentary

First published 2018

Skeletal Muscle Modulates Huntington’s Disease Pathogenesis in Mice: Role of Physical Exercise

Silvia Corrochano, Gonzalo Blanco, Abraham Acevedo-Arozena

Neuroscience Insights

Free access

Case report

First published 2018-11

Does thyrotoxic periodic paralysis have a genetic predisposition? A case report

E Rasheed, J Seheult, J Gibney [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Free access

Case report

First published 2008-3

Thyrotoxic periodic paralysis in an Italian man: clinical manifestation and genetic analysis

Francesco Vendrame, Antonella Verrienti, Claudio Parlapiano [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Search results