Results 141 to 150 of about 3,195 (191)

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

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

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

Use of HSA^LR female mice as a model for the study of myotonic dystrophy type I. [PDF]

Lab Anim (NY)
Carrascosa-Sàez M, Colom-Rodrigo A, González-Martínez I, Pérez-Gómez R, García-Rey A, Piqueras-Losilla D, Ballestar A, Llamusí B, Cerro-Herreros E, Artero R.   +9 more
europepmc   +1 more source

Carbamazepine treatment of myotonia congenita in a cat. [PDF]

JFMS Open Rep
Lopez Bonilla GV, Parsley E, Shelton GD, Faissler D.   +3 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

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  

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