Results 181 to 190 of about 3,329 (204)

[Myotonia congenita].

Neurologija, 1979
S, Krstić, J, Gospavić, S, Dozić, Z, Vidaković, B, Filipović   +4 more
openaire   +1 more source

Preclinical evaluation of marketed sodium channel blockers in a rat model of myotonia discloses promising antimyotonic drugs

Experimental Neurology, 2014
Jean-Francois Desaphy, Diana Conte Camerino   +1 more
exaly  

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

Experimental Neurology, 2013
Jean-Francois Desaphy, Concetta Altamura, Paola Imbrici   +2 more
exaly  

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

Journal of Human Genetics, 2013
Raffaella Brugnoni, Paola Imbrici, Mauro Pessia   +2 more
exaly  

Inhibiting persistent inward sodium currents prevents myotonia

Annals of Neurology, 2017
Andrew A Voss, Mark M Rich
exaly  

MYOTONIA CONGENITA

Clinical Orthopaedics and Related Research, 1969
openaire   +1 more source

Diphenylhydantoin for Myotonia Congenita

New England Journal of Medicine, 1972
openaire   +2 more sources

Myotonia congenita

The Journal of Pediatrics, 1938
openaire   +1 more source

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

NeuroMolecular Medicine, 2015
Simona Portaro, Concetta Altamura, Paola Imbrici   +2 more
exaly  

Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review

Pediatrics, 2016
Simona Portaro, Carmelo Rodolico, Olimpia Musumeci   +2 more
exaly