Results 121 to 130 of about 10,028,553 (168)

Analysis of the differential transcriptome expression profiles during prenatal muscle tissue development in Diqing Tibetan pigs. [PDF]

Front Vet Sci
Luo S, Bai Y, Li X, Jin S, Yan D, Dong X.   +5 more
europepmc   +1 more source

Severe Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of SCN4A and CLCN1 Variants: A Case Report. [PDF]

Neurol Genet
Tugizova M, Margeta M, Richie M, Pet D, Rosow L, Terrelonge M, Ralph JW.   +6 more
europepmc   +1 more source

Myotonia: Recognition, Evaluation, and Differential Diagnosis. [PDF]

Muscle Nerve
Crayle JI, Al-Lozi M, Miller TM.
europepmc   +1 more source

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita. [PDF]

Front Genet
Lucchiari S, Fortunato F, Meola G, Mignarri A, Pagliarani S, Corti S, Comi GP, Ronchi D.   +7 more
europepmc   +1 more source

RNA splicing in health and disease. [PDF]

Mol Biomed
Huang H, Yu Y, Zhou Q, Deng G, Li Y, Zeng F.   +5 more
europepmc   +1 more source

Differential pathology and susceptibility to MBNL loss across muscles in myotonic dystrophy mouse models. [PDF]

JCI Insight
Davenport ML, Fong A, Montoya-Vazquez G, de Moura MFA, Bubenik JL, Swanson MS.   +5 more
europepmc   +1 more source

Changes in RNA splicing as a surrogate endpoint for myotonic dystrophy Type 1 (DM1) clinical trials. [PDF]

J Neuromuscul Dis
Berglund JA, Novack A, Ivanovska Holder I, Ray S, Johnson NE.   +4 more
europepmc   +1 more source

SCN4A Channelopathies: From Disease Mechanisms to Variant Interpretation. [PDF]

Genes (Basel)
D'Ambrosio P, Cipriano L, Pugliese A, Petillo R, Ricciardi D, Habetswallner F, Rodolico C, Priolo M.   +7 more
europepmc   +1 more source

Integrating sequence-based GWAS and comparative genomic analysis reveals conservation and species-specificity of putative functional variants influencing tail length and tail abnormalities in pigs and sheep. [PDF]

PLoS One
Zhang X, Mainzer J, Giambra I, Yin T, Engel P, Hümmelchen H, Wagner H, Wehrend A, Egerer C, Gerhards K, Reiner G, König S.   +11 more
europepmc   +1 more source

A preliminary study on the prognostic impact of platelet to monocyte ratio and its related genes on non-small cell lung cancer. [PDF]

BMC Cancer
Tang Y, Huang Y, Chen L, Huang Z, Huang X, He Z.   +5 more
europepmc   +1 more source