Results 141 to 150 of about 2,738 (205)

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

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

Molekularbiologie in der Neurologie [PDF]

, 1994
Borasio, Gian Domenico, Brandt, T., Gasser, T.   +2 more
core  

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

Novel insights into neuropathy: The impact of prolonged hyperglycemia on long non-coding RNA expression. [PDF]

PLoS One
Zglejc-Waszak K, Jastrzebski JP, Wojtkiewicz J, Pidsudko Z, Juranek JK.   +4 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

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

N6-methyladenosine improves porcine longissimus dorsi muscle quality by regulating myofiber differentiation. [PDF]

BMC Genomics
Yin C, Yang S, Huang Y, Zhou Z, Huang J, Yang B, Huang L.   +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

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