Results 211 to 220 of about 16,999 (238)
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Pediatric neuromuscular channelopathies
Pediatric skeletal muscle channelopathies include a spectrum of conditions including nondystrophic myotonias and periodic paralyses. They are rare inherited conditions that can cause significant morbidity. They are characterized by episodic stiffness and weakness. While there is significant phenotypic variability, there are distinct diagnostic features.Vinojini, Vivekanandam +2 more
openaire +2 more sources
Improving genetic diagnostics of skeletal muscle channelopathies
Expert Review of Molecular Diagnostics, 2020Vinojini Vivekanandam +2 more
exaly
Inherited calcium channelopathies in the pathophysiology of arrhythmias
Nature Reviews Cardiology, 2012Marco Denegri +2 more
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Rare neurological channelopathies — networks to study patients, pathogenesis and treatment
Nature Reviews Neurology, 2016Joanna C Jen +2 more
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Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances
Biology, 2017Georgia Sarquella-Brugada +2 more
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