Results 101 to 110 of about 799 (137)

Autism-related traits in myotonic dystrophy type 1 model mice are due to MBNL sequestration and RNA mis-splicing of autism-risk genes. [PDF]

Nat Neurosci
Sznajder ŁJ, Khan M, Ciesiołka A, Tadross M, Nutter CA, Taylor K, Pearson CE, Lewis MH, Hines RM, Swanson MS, Sobczak K, Yuen RKC.   +11 more
europepmc   +1 more source

Optical genome mapping enables accurate testing of large repeat expansions. [PDF]

Genome Res
van der Sanden B, Neveling K, Shukor S, Gallagher MD, Lee J, Burke SL, Pennings M, van Beek R, Oorsprong M, Kater-Baats E, Kamping E, Tieleman AA, Voermans NC, Scheffer IE, Gecz J, Corbett MA, Vissers LELM, Pang AWC, Hastie A, Kamsteeg EJ, Hoischen A.   +20 more
europepmc   +1 more source

Systematic approach to contextualize findings of flexible endoscopic evaluation of swallowing in neurogenic dysphagia- towards an integrated FEES report. [PDF]

Neurol Res Pract
Dziewas R, Warnecke T, Labeit B, Claus I, Muhle P, Oelenberg S, Ahring S, Wüller C, Jung A, von Itter J, Suntrup-Krueger S.   +10 more
europepmc   +1 more source

Altered drug metabolism and increased susceptibility to fatty liver disease in a mouse model of myotonic dystrophy. [PDF]

Nat Commun
Dewald Z, Adesanya O, Bae H, Gupta A, Derham JM, Chembazhi UV, Kalsotra A.   +6 more
europepmc   +1 more source

RNAi-based drug design: considerations and future directions. [PDF]

Nat Rev Drug Discov
Tang Q, Khvorova A.
europepmc   +1 more source

Muscle-specific gene editing improves molecular and phenotypic defects in a mouse model of myotonic dystrophy type 1. [PDF]

Clin Transl Med
Izzo M, Battistini J, Golini E, Voellenkle C, Provenzano C, Orsini T, Strimpakos G, Scavizzi F, Raspa M, Baci D, Frolova S, Tastsoglou S, Zaccagnini G, Garcia-Manteiga JM, Gourdon G, Mandillo S, Cardinali B, Martelli F, Falcone G.   +18 more
europepmc   +1 more source

Amphiphilic Oligonucleotide Derivatives-Promising Tools for Therapeutics. [PDF]

Pharmaceutics
Bauer IA, Dmitrienko EV.
europepmc   +1 more source

The expression of ion channel mRNAs in skeletal muscles from patients with myotonic muscular dystrophy [PDF]

キムラ, タカシ, 木村, 卓
core  

Expanded CTG repeats in myotonin protein kinase suppresses myogenic differentiation

NeuroReport, 1997
A full-length mutant human myotonin protein kinase (MtPK) cDNA having a 46 expanded CTG-repeat size or a wild type containing 5 CTG repeats was stably transfected into mouse C2C12 cell line in order to explore the effects of the expansion mutation of trinucleotide repeats in the 3' untranslated region on developing myogenic cells.
F, Usuki, S, Ishiura, N, Saitoh, N, Sasagawa, H, Sorimachi, H, Kuzume, K, Maruyama, T, Terao, K, Suzuki   +8 more
openaire   +2 more sources