Results 71 to 80 of about 17,131 (226)
Disease Models & Mechanisms, 2021 First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers.
doaj +1 more source
Malignant Hyperthermia in Sweden: Clinical Presentations and Genetic Findings
Acta Anaesthesiologica Scandinavica, Volume 70, Issue 6, July 2026.ABSTRACT Introduction Malignant hyperthermia (MH) is a pharmacogenetic, hypermetabolic and potentially lethal reaction to potent volatile anaesthetics and the muscle relaxant succinylcholine. To improve the understanding of MH, the aim of this retrospective study was to describe the Swedish cohort with respect to clinical manifestations, demographics ...
Anna Hellblom +2 more
wiley +1 more source
MALE GONAD IN MYOTONIC DYSTROPHY [PDF]
, 1974 1. A 32-year-old man with myotonic dystrophy was seen at our male infertility clinic because of childless marriage for four years. Semen analysis showed azoospermia and testicular biopsy hypospermatogenesis with focal seminiferous tubule atrophy.
小松, 洋輔, 友吉, 唯夫
core
Central and peripheral components of exercise-related fatigability in myotonic dystrophy type 1
, 2011 Fatigue frequently occurs in myotonic dystrophy type 1 (DM1), but its pathophysiology remains unclear. This study assessed central and peripheral components of exercise-related fatigability in patients with DM1, compared to ...
J.-P. Lefaucheur +7 more
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Cardiology Research and Practice, 2010 Myotonic dystrophy is a genetic muscular disease that is frequently associated with cardiac arrhythmias. Bradyarrhythmias, such as sinus bradycardia and atrioventricular block, are more common than tachyarrhythmias.
S. Asbach +4 more
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A trigger-happy soldier with bilateral ptosis and dysphagia
Biomedical Journal, 2015 Muscular dystrophy encompasses a group of disorders characterized by the progressive weakness of the skeletal muscles. These disorders are mostly inherited and have characteristic age and muscle group predilection.
F.M.H. Ahmad, K.V.S. Hari Kumar
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Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem +2 more
wiley +1 more source
Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content [PDF]
, 2011 Dynamic expansions of toxic polyglutamine (polyQ)-encoding CAG repeats in ubiquitously expressed, but otherwise unrelated, genes cause a number of late-onset progressive neurodegenerative disorders, including Huntington disease and the spinocerebellar ...
Darren G. Monckton +7 more
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American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1326-1336, June 2026.ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe +22 more
wiley +1 more source