Results 131 to 140 of about 2,733 (194)

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

Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1). [PDF]

ChemMedChem
Richagneux C, Granzhan A.
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 Congenita in Australian Merino Sheep with a Missense Variant in CLCN1. [PDF]

Animals (Basel)
Manning LK, Eager KLM, Willet CE, Slattery S, McNally JH, Spiers ZB, Hazelton M, Child G, Duggan R, O'Rourke BA, Tammen I.   +10 more
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

Molekularbiologie in der Neurologie [PDF]

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

Novel Lys215Asn mutation in an Italian family with Thomsen myotonia [PDF]

, 2018
A. Rigamonti, A. Salmaggi, G.P. Comi, R. Balgera, S. Lucchiari, V. Mantero   +5 more
core   +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

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

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