Results 151 to 160 of about 3,216 (202)

MBNL proteins in health, disease, and therapeutic applications. [PDF]

Nucleic Acids Res
Musiała-Kierklo N, Konieczny P, Plewka P, Jasiok A, Stępniak-Konieczna E.   +4 more
europepmc   +1 more source

Validation of the FVB/N-Tg(HSA* LR)20bCath mice of myotonic dystrophy using swallowing function assessment, histology, and immunofluorescence analysis. [PDF]

PLoS One
Asayama R, Tanaka-Nishikubo K, Iwanami J, Fukazawa T, Kanagawa M, Hato N.   +5 more
europepmc   +1 more source

Alternative splicing dysregulation across tissue and therapeutic approaches in a mouse model of myotonic dystrophy type 1. [PDF]

Mol Ther Nucleic Acids
Hicks SM, Frias JA, Mishra SK, Scotti M, Muscato DR, Valero MC, Adams LM, Cleary JD, Nakamori M, Wang E, Berglund JA.   +10 more
europepmc   +1 more source

Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort. [PDF]

BMC Neurol
Alhammad RM, Alrehaili ML, Albulaihe HM, Aljereish SS, Alanazy MH.   +4 more
europepmc   +1 more source

CLCN5 inhibits tumorigenesis and fatty acid accumulation in clear cell renal cell carcinoma by regulating Enoyl CoA hydratase and 3-Hydroxyacyl CoA dehydrogenase. [PDF]

Int J Med Sci
Yu T, Li W, Meng X, Yang W, Ruan H, Xiao W, Zhang X.   +6 more
europepmc   +1 more source

In Silico Analysis: Molecular Characterization and Evolutionary Study of CLCN Gene Family in Buffalo. [PDF]

Genes (Basel)
Fu Y, Khan MF, Wang Y, Parveen S, Sultana M, Liu Q, Shafique L.   +6 more
europepmc   +1 more source

Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders. [PDF]

Hum Genomics
Kim J, Kim GH, Min S, Seol CA, Seo EJ.
europepmc   +1 more source

Novel CLCN1 mutations with unique clinical and electrophysiological consequences [PDF]

Brain, 2002
Myotonia is a condition characterized by impaired relaxation of muscle following sudden forceful contraction. We systematically screened all 23 exons of the CLCN1 gene in 88 unrelated patients with myotonia and identified mutations in 14 patients. Six novel mutations were discovered: five were missense (S132C, L283F, T310M, F428S and T550M) found in ...
Zeljka Korade, Aisling M Ryan, Christoph Fahlke   +2 more
exaly   +5 more sources

Myotonia congenita in a Labrador Retriever with truncated CLCN1

Neuromuscular Disorders, 2018
An eight week old Labrador Retriever puppy presented with stiff-legged robotic gait. Abnormal gait was most evident after rest and improved with prolonged activity. On occasions, initiation of sudden movements would result in collapse with rigidity of the trunk and stiff extended limbs for several seconds.
Marjo Hytönen, Kaspar Matiasek, Marco Rosati   +2 more
exaly   +4 more sources