Results 141 to 150 of about 3,329 (204)

A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link? [PDF]

Medicine (Baltimore), 2018
Portaro S, Cacciola A, Naro A, Milardi D, Morabito R, Corallo F, Marino S, Bramanti A, Mazzon E, Calabrò RS.   +9 more
europepmc   +1 more source

Molekularbiologie in der Neurologie [PDF]

, 1994
Borasio, Gian Domenico, Brandt, T., Gasser, T.   +2 more
core  

A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A. [PDF]

J Clin Neurol, 2016
Chung KW, Yoo DH, Lee SJ, Choi BO, Lee SS.   +4 more
europepmc   +1 more source

Myotonia congenita (Thomsen's disease). (A case report)

The Turkish Journal of Pediatrics, 1968
V Baytok
doaj  

Myotonia congenita: novel mutations in CLCN1 gene. [PDF]

Channels (Austin), 2015
Liu XL, Huang XJ, Shen JY, Zhou HY, Luan XH, Wang T, Chen SD, Wang Y, Tang HD, Cao L.   +9 more
europepmc   +1 more source

Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features. [PDF]

Korean J Physiol Pharmacol, 2017
Chin HJ, Kim CH, Ha K, Shin JH, Kim DS, So I.   +5 more
europepmc   +1 more source

The Overlap between Fibromyalgia Syndrome and Myotonia Congenita. [PDF]

J Clin Neurol, 2015
Nam TS, Choi SY, Park DJ, Lee SS, Kim YO, Kim MK.   +5 more
europepmc   +1 more source

Anaesthesia for Paramyotonia Congenita: A Narrative Review. [PDF]

Cureus
Chee M, Thangavelautham S, Chen JH, Kothandan H.   +3 more
europepmc   +1 more source

Phenotypic Variations in Clinical Presentations of Paramyotonia Congenita in Two Brothers. [PDF]

Ann Indian Acad Neurol
Tayade K, Ghadi V, Asole D, Bharote H, Venkatachalam A.   +4 more
europepmc   +1 more source