Results 91 to 100 of about 31,854 (258)
Advanced Healthcare Materials, Volume 14, Issue 12, May 6, 2025.The scaffold‐free Anchored Cell Sheet Engineering platform is used to create three‐dimensional (3D) in vitro models of skeletal muscle tissue that replicate key features of Duchenne and Myotonic dystrophies. These personalized tissue models, validated by histological, immunostaining, and proteomics analyses, accurately mimic disease phenotypes and ...
Alireza Shahin‐Shamsabadi +1 more
wiley +1 more source
Brain connectomics' modification to clarify motor and nonmotor features of myotonic dystrophy type 1 [PDF]
, 2016 The adult form of myotonic dystrophy type 1 (DM1) presents with paradoxical inconsistencies between severity of brain damage, relative preservation of cognition, and failure in everyday life.
Bozzali, Marco +12 more
core +6 more sources
Contractures of the Hands As a Prenatal Phenotype of CACNA1A‐Related Disorder
Prenatal Diagnosis, EarlyView.
Lara Menzies +5 more
wiley +1 more source
Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1) [PDF]
, 2014 Background : Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic multisystem disorder and the commonest adult-onset form of muscular dystrophy. DM1 results from the expansion of an unstable trinucleotide cytosine-thymine-guanine (CTG) repeat
Jean, Stéphane +3 more
core +2 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
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
Glasgow Contributions to the Human Gene Mapping Project, 1959-1987 [PDF]
, 2015 No abstract ...
Ferguson-Smith, Malcolm
core
Steinert myotonic dystrophy – a multisystemic disorder with occular implication
Romanian Neurosurgery, 2013 The Steinert Myotonic Dystrophy is the most common systemic disease in adults with dominant autosomal transmission. We present two patients, who were hospitalized in the 2nd Clinic of Ophthalmology, at the "Prof. Nicolae Oblu" Emergency Hospital of Iasi,
Claudia F. Costea, D. Petraru
doaj
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