Associated Papers
Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.
Beam TA et al.
Physiological Genomics, 2017
[A case of MELAS with G13513A mutation presenting with chronic kidney disease long before stroke-like episodes].
Motoda A et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease.
Lyfenko AD et al.
Biochemical and Biophysical Research Communications, 2004
Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling.
Weiss RG et al.
American Journal of Physiology. Cell Physiology, 2004
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
No evidence of mutations in the CACNA1S gene in the UK malignant hyperthermia population.
Brooks C et al.
British Journal of Anaesthesia, 2002
Genetics and pathogenesis of malignant hyperthermia.
Jurkat-Rott K et al.
Muscle & Nerve, 2000
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