CrossRef Text and Data Mining
Result of CrossRef Text and Data Mining Search is the related articles with entitled article. If you click link1 or link2 you will be able to reach the full text site of selected articles; however, some links do not show the full text immediately at now. If you click CrossRef Text and Data Mining Download icon, you will be able to get whole list of articles from literature included in CrossRef Text and Data Mining.
A Paramyotonia Congenita Family with an R1448H Mutation in SCN4A
Yoo Jung Lee, Yoon Hee Jo, Young Mi Kim
Ann Child Neurol. 2022;30(4):204-207.   Published online September 16, 2022
DOI: https://doi.org/10.26815/acn.2022.00206

Excel Download

A Paramyotonia Congenita Family with an R1448H Mutation in SCN4A
Annals of Child Neurology. 2022;30(4):204-207   Crossref logo
Link1 Link2 Link3

Prolonged attacks of weakness with hypokalemia in SCN4A -related paramyotonia congenita
Muscle & Nerve. 2018;58(4):E27-E28   Crossref logo
Link1 Link2

Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V
The Journal of Physiology. 2003;547(3):691-698   Crossref logo
Link1 Link2

C4342T-mutation in the SCN4A gene on chromosome 17q in a Swedish family with paramyotonia congenita (Eulenburg) – correlations with clinical, neurophysiological and muscle biopsy data
Neuromuscular Disorders. 1997;7(4):231-233   Crossref logo
Link1 Link2

P.12.11 Atypical paramyotonia congenita in a boy with a new mutation in the SCN4A gene
Neuromuscular Disorders. 2013;23(9-10):808   Crossref logo
Link1 Link2

A SCN4A mutation causing paramyotonia congenita
Neuromuscular Disorders. 2017;27(12):1123-1125   Crossref logo
Link1 Link2

A Korean Family with Arg1448Cys Mutation of SCN4A Channel Causing Paramyotonia Congenita: Electrophysiologic, Histopathologic, and Molecular Genetic Studies
Journal of Korean Medical Science. 2002;17(6):856   Crossref logo
Link1 Link2 Link3

Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review
Channels. 2019;13(1):110-119   Crossref logo
Link1

A large dominant myotonia congenita family with a V1293I mutation in SCN4A
Neuromuscular Disorders. 2016;26:S197   Crossref logo
Link1 Link2

Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family
Journal of Clinical Neuroscience. 2011;18(8):1138-1140   Crossref logo
Link1 Link2