Results 151 to 158 of about 2,226 (158)

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

Neuromuscular Disorders, 2012
Adela Escudero Lopez, FRANCISCO Barros, Pilar De La Peña Cortines   +2 more
exaly  

Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita

Human Mutation, 1999
Renato Mantegazza, Raffaella Brugnoni
exaly  

Exon 17 skipping inCLCN1 leads to recessive myotonia congenita

Muscle and Nerve, 2004
Lie Chen, Zen H Lu
exaly  

Functional studies of the effect of NO donor on human CLCN1 polymorphism/mutants expressed in Xenopus laevis oocytes

Biochemical and Biophysical Research Communications, 2008
Huichin Pan
exaly  

A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)

Human Molecular Genetics, 1994
C, Meyer-Kleine, K, Ricker, M, Otto, M C, Koch   +3 more
openaire   +2 more sources

Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression

Biochemical and Biophysical Research Communications, 2006
Huichin Pan
exaly  

Periodic Paralysis in the Phenotypic Spectrum of CLCN1 Gene Mutation (P1.6-048)

Neurology, 2019
Himadri Patel, Harmanpreet Tiwana, Gayatra Mainali, Matthew Wicklund, Ashutosh Kumar   +4 more
openaire   +1 more source

G.P.14.08 Analysis of the CLCN1 gene in Czech patients with myotonia congenita

Neuromuscular Disorders, 2009
J. Sedlackova, S. Vohanka, M. Hermanova, P. Vondracek, L. Fajkusova   +4 more
openaire   +1 more source