Results 101 to 110 of about 26,826 (219)
Can human pluripotent stem cell-derived cardiomyocytes advance understanding of muscular dystrophies? [PDF]
, 2016 Muscular dystrophies (MDs) are clinically and molecularly a highly heterogeneous group of single-gene disorders that primarily affect striated muscles.
Denning, Chris +2 more
core +4 more sources
Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]
, 2015 The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the +7 more
core +2 more sources
Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I [PDF]
, 2017 Myotonic dystrophy type I (DM1) is a disabling multisystemic disease that predominantly affects skeletal muscle. It is caused by expanded CTG repeats in the 3'-UTR of the dystrophia myotonica protein kinase (DMPK) gene.
Beat Erne +19 more
core +4 more sources
Journal of Cardiovascular Development and DiseaseMyotonic dystrophy is a hereditary disorder with systemic involvement. The Italian Neuro-Cardiology Network-“Rete delle Neurocardiologie” (INCN-RNC) is a unique collaborative experience involving neurology units combined with cardio-arrhythmology units ...
Vincenzo Russo +12 more
doaj +1 more source
In vivo assessment of muscle membrane properties in myotonic dystrophy [PDF]
, 2016 INTRODUCTION: Myotonia in myotonic dystrophy types 1 (DM1) and 2 (DM2) is generally attributed to reduced chloride channel conductance. We used muscle velocity recovery cycles (MVRCs) to investigate muscle membrane properties in DM1 and DM2, with ...
Bostock, H +5 more
core
Cellular and molecular mechanisms underlying muscular dystrophy [PDF]
, 2014 The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core +1 more source
Two Cases of Endometrial Cancer in Twin Sisters with Myotonic Dystrophy
Case Reports in Obstetrics and Gynecology, 2016 We describe two cases of endometrial cancer (EC) occurring in nulligravid twin sisters with myotonic dystrophy. Both tested negative for Lynch syndrome and both were treated with laparoscopic hysterectomy with bilateral salpingooophorectomy and adjuvant ...
Ezra Y. Koh, Paul J. M. van Kesteren
doaj +1 more source
Predominantly myalgic phenotype caused by the c.3466G > A p.A1156T mutation in SCN4A gene [PDF]
, 2017 Objective: To characterize the clinical phenotype in patients with p.A1156T sodium channel mutation. Methods: Twenty-nine Finnish patients identified with the c.3466G>A p.A1156T mutation in the SCN4A gene were extensively examined. In a subsequent study,
Hanna, Michael G. +5 more
core +2 more sources
Aberrant Myokine Signaling in Congenital Myotonic Dystrophy
Cell Reports, 2017 Summary: Myotonic dystrophy types 1 (DM1) and 2 (DM2) are dominantly inherited neuromuscular disorders caused by a toxic gain of function of expanded CUG and CCUG repeats, respectively.
Masayuki Nakamori +8 more
doaj +1 more source