Results 141 to 150 of about 1,941 (150)

Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene

Muscle and Nerve, 2010
Adel Shalata
exaly  

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

European Journal of Human Genetics, 2002
T Torbergsen, Lisbeth Tranebjærg
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
Jean-François Desaphy, Paola Imbrici, Nicole Kerlero De Rosbo   +2 more
exaly  

Frequency and causes of prevalence of p.Arg894* mutation in CLCN1 gene responsible for development of thomsen’s and becker’s myotonias in russian population

Russian Journal of Genetics, 2013
Elena Ivanova, Polyakov A V, A V Polyakov   +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  

Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients

Journal of Genetics, 2019
Carmen Palma Milla
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  

0256 Neurophysiological detection of transitory weakness in autosomal recessive myotonia and correlation to CLCN1 gene mutations

Journal of the Neurological Sciences, 2005
openaire   +1 more source

A Novel CLCN1 Gene Mutation Associated with Hypokalemic Periodic Paralysis in a Pregnant Woman.

The Israel Medical Association journal : IMAJ
Jawad, Atrash, Omar, Abu Libdeh, Bashar, Fteiha, Marwan, Abu Sneineh, Alon, Bnaya, Linda, Shavit   +5 more
openaire   +1 more source

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