Results 141 to 150 of about 2,226 (158)

Expanding the clinical spectrum of CLCN1 mutations (P13-13.008)

Neurology, 2022
openaire   +1 more source

Atypical Presentation of CLCN1 Mutations: A Case Series (P2.126)

Neurology, 2017
Anisha Bhangav, Georgios Manousakis
openaire   +1 more source

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

Journal of Neurology, 2008
Benedikt Schoser, Hanns Lochmüller, B Udd   +2 more
exaly  

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
Cord Drogemuller, Walter Grünberg, Francesco Pascoli   +2 more
exaly  

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

European Journal of Human Genetics, 2008
Engelen B, Gea Drost, Anneke Van Der Kooi   +2 more
exaly  

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

European Journal of Human Genetics, 2002
T Torbergsen, Lisbeth Tranebjærg
exaly  

Gene symbol: CLCN1. Disease: Myotonia congenita.

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

Identification of two novel compound heterozygous CLCN1 mutations associated with autosomal recessive myotonia congenita

Neurological Research, 2019
Junhong Guo, Zhang Jing, Chang Xueli
exaly  

Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature

Channels, 2017
Xinglong Yang, Yanming Xu
exaly  

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

NeuroMolecular Medicine, 2015
Concetta Altamura, Jean-François Desaphy, Paola Imbrici   +2 more
exaly