Results 111 to 120 of about 39,732 (154)

A clinical prediction rule for myotonia permanens associated with the <i>SCN4A</i> p.Gly1306Glu variant. [PDF]

Curr Res Neurobiol
Polanco DR, Almendras CJ, Lucero ML, Padilla Pérez O, Beytía Reyes MLA, Valdebenito IZ, Muller GB, Henríquez RE, Leal CPV, Rivera MS, Avila-Smirnow D.   +10 more
europepmc   +1 more source

SCN4A Channelopathies: From Disease Mechanisms to Variant Interpretation. [PDF]

Genes (Basel)
D'Ambrosio P, Cipriano L, Pugliese A, Petillo R, Ricciardi D, Habetswallner F, Rodolico C, Priolo M.   +7 more
europepmc   +1 more source

Acetazolamide-responsive myotonia with a novel Ile239Thr mutation in SCN4A gene: a case report. [PDF]

Ann Med Surg (Lond)
Yadav J, Barnwal R, Kumar Mandal S, Prajapati B.   +3 more
europepmc   +1 more source

Diagnosing Dyskeratosis Congenita and Related Telomere Biology Disorders

, 2015
Baerlocher, Gabriela M., Bertuch, Alison A., Alter, Blanche P.   +2 more
core  

Drug treatment for myotonia. [PDF]

Cochrane Database Syst Rev
Spillane J, Trip J, Drost G, Faber CG, Hanna MG, Nevitt SJ, Vivekanandam V.   +6 more
europepmc   +1 more source

Dynamic MR of Muscle Contraction During Electrical Muscle Stimulation: Potential Application to the Evaluation of Neuromuscular Diseases. [PDF]

NMR Biomed
Santini F, Croce MG, Deligianni X, Maggioni MB, Paoletti M, Barzaghi L, Bergsland N, Faggioli A, Manco G, Bonizzoni C, Jin N, Ravaglia S, Pichiecchio A.   +12 more
europepmc   +1 more source

Life-Threatening Hypokalemia Revealing CACNA1S-Related Hypokalemic Periodic Paralysis. [PDF]

Cureus
Ottu Para NK, Rab S.
europepmc   +1 more source

Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review. [PDF]

Heliyon
Han JY, Park J.
europepmc   +1 more source

A retrospective study of accuracy and usefulness of electrophysiological exercise tests. [PDF]

J Neurol
Periviita V, Jokela M, Palmio J, Udd B.
europepmc   +1 more source

Carbamazepine treatment of myotonia congenita in a cat. [PDF]

JFMS Open Rep
Lopez Bonilla GV, Parsley E, Shelton GD, Faissler D.   +3 more
europepmc   +1 more source