Results 101 to 110 of about 1,941 (150)

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

Current biomarker development in myotonic dystrophies. [PDF]

J Neurol
Larsen M, Mendelsohn DH, Kleefeld F, Meinke P, Schoser B.   +4 more
europepmc   +1 more source

Identification of Splicing Regulatory Activity of ATXN1 and Its Associated Domains. [PDF]

Biomolecules
Ohki A, Kato M, Aoki Y, Kubokawa A, Yanaizu M, Kino Y.   +5 more
europepmc   +1 more source

Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity. [PDF]

Arch Med Sci
Szczęśniak D, Bednarska-Makaruk M, Drgas O, Kowalczyk K, Kacprzak MM, Aleksandrowicz P, Kotuła L, Mroczek M.   +7 more
europepmc   +1 more source

Comparative Analysis of Splicing Alterations in Three Muscular Dystrophies. [PDF]

Biomedicines
Todorow V, Hintze S, Schoser B, Meinke P.   +3 more
europepmc   +1 more source

Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders. [PDF]

Neurogenetics
Radziwonik-Fraczyk W, Elert-Dobkowska E, Karpinski M, Pilch J, Ziora-Jakutowicz K, Kubalska J, Szczesniak D, Stepniak I, Zaremba J, Sulek A.   +9 more
europepmc   +1 more source

Utility of prenatal trio whole-exome sequencing and methylation-specific multiplex ligation-dependent probe amplification in the evaluation of fetal growth restriction. [PDF]

Front Med (Lausanne)
Chen Y, Wang M, Cai X, Wu X, Zeng J, Zhou L.   +5 more
europepmc   +1 more source

Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature. [PDF]

Acta Myol
Lucchiari S, Magri F, Rimoldi M, Pagliarani S, Corti S, Comi GP, Sciacco M.   +6 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

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