Results 181 to 190 of about 2,733 (194)

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia

European Journal of Human Genetics, 2008
Jan J G M Verschuuren
exaly  

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

European Journal of Human Genetics, 2002
Chen Sun, Marijke Van Ghelue
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, Dimos Kapetis, Paola Imbrici   +2 more
exaly  

Novel CLCN1 mutations with unique clinical and electrophysiological consequences

Brain, 2002
Zeljka Korade, Aisling M Ryan, Christoph Fahlke   +2 more
exaly  

Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.

Human genetics, 2008
Fernando, Morales, Patricia, Cuenca, Gerardo, del Valle, Melissa, Vásquez, Roberto, Brian, Mauricio, Sittenfeld, Keith, Johnson, Xi, Lin, Tetsuo, Ashizawa   +8 more
openaire   +1 more source

A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony

Neuromuscular Disorders, 2012
Francesco Pascoli, Walter Grünberg
exaly  

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  

MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1

Nucleic Acids Research, 2009
Yoshihiro Kino, Nobuyuki Nukina
exaly  

Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients

Journal of Genetics, 2019
Carmen Palma Milla
exaly  

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

Clinical Genetics, 2011
exaly