Results 111 to 120 of about 2,226 (158)

Enhanced muscle uptake of chemically optimized miR-23b antisense oligonucleotides as lead compounds for myotonic dystrophy type 1. [PDF]

Am J Hum Genet
González-Martínez I, Cerro-Herreros E, Carrascosa-Sàez M, García-Rey A, Piqueras-Losilla D, Colom-Rodrigo A, Moreno N, Chakraborty M, Huguet-Lachon A, González-Barriga A, Naldaiz-Gastesi N, Dehesa M, Díaz-Maqueda A, Barquero N, Varela MA, López de Munain A, Eritja R, Gourdon G, López-Castel A, Pérez-Alonso M, Llamusi B, Artero R.   +21 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

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

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

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

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.
Kaspar Matiasek, Andrea Fischer, Marco Rosati   +2 more
exaly   +4 more sources

Some of the next articles are maybe not open access.

Related searches:

Novel CLCN1 mutations in Taiwanese patients with myotonia congenita

Journal of Neurology, 2004
We have performed genetic screening on the skeletal muscle chloride channel gene (CLCN1) in Taiwanese population. A total of four patients with myotonia congenita (MC) together with 106 normal individuals were examined. All 23 exons of the CLCN1 gene were analysed by direct sequencing of PCR products to detect the nucleotide changes. Five mutations and
Huichin Pan, Shuo-Bin Jou
exaly   +3 more sources

Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia

Neurological Sciences, 2021
Myotonic disorders are a group of diseases affecting the muscle, in different ways. Myotonic dystrophy type 1 (DM1) is related to (CTG)n expansion in the 3-untranslated region of the dystrophia myotonica protein kinase (DMPK) gene and is the most frequent and disabling form, causing muscular, visibility, respiratory, and cardiac impairment.
Locci, Sara, Cardani, Rosanna, Brunori, Paola, Lucchiari, Sabrina, Comi, Giacomo P, Federico, Antonio, De Stefano, Nicola, Meola, Giovanni, Mignarri, Andrea   +8 more
openaire   +5 more sources