Results 111 to 120 of about 1,313 (165)

Unraveling the pharmacological and therapeutic potential of Ranolazine beyond antianginal drug use: a new insight. [PDF]

Exp Biol Med (Maywood)
Singh D, Oladimeji-Salami JA, Akindele AJ.   +2 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

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

Preclinical study of the antimyotonic efficacy of safinamide in the myotonic mouse model. [PDF]

Neurotherapeutics
Canfora I, Altamura C, Desaphy JF, Boccanegra B, Vailati S, Caccia C, Melloni E, Padoani G, De Luca A, Pierno S.   +9 more
europepmc   +1 more source

A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies. [PDF]

J Korean Med Sci, 2002
Kim DS, Kim EJ, Jung DS, Park KH, Kim IJ, Kwak KY, Kim CM, Ko HY.   +7 more
europepmc   +1 more source

Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions. [PDF]

Cerebellum
Conci E, Kelly TL, Armstrong R, Harijan P, Horvath R.   +4 more
europepmc   +1 more source

Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report. [PDF]

Biomolecules
Onore ME, Picillo E, D'Ambrosio P, Morra S, Nigro V, Politano L.   +5 more
europepmc   +1 more source

Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants. [PDF]

J Hum Genet
Kubota T, Nagata M, Takagi K, Ishihara Y, Kojima K, Uchikura Y, Yamamoto R, Yonei A, Ozaki E, Kira N, Takahashi S, Homma K, Miyashita Y, Eguchi-Ishimae M, Sakai N, Asano Y, Sakata Y, Ozono K, Eguchi M, Takahashi MP.   +19 more
europepmc   +1 more source