J.J.A. Heffron

Localization of the malignant hyperthermia susceptibility locus to human chromosome 19ql2–13.2

Tommie V. McCarthy, John Healy, J.J.A. Heffron et al. · Nature · 1990 · 374 citations

Life Sciences, Genetics, Molecular Genetics +5

In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: Results of testing patients surviving fulminant MH and unrelated low‐risk subjects

Helle Ørding, Virginia Brancadoro, Santolo Cozzolino et al. · Acta Anaesthesiologica Scandinavica · 1997 · 299 citations

Medicine, Anesthesiology, Good Clinical Practice +9

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca ²⁺ release channel function and severe central core disease

Patrick J. Lynch, Jiefei Tong, M Lehane et al. · Proceedings of the National Academy of Sciences · 1999 · 234 citations

Life Sciences, Genetics, Physiology +17

Identification of Novel Mutations in the Ryanodine-Receptor Gene (RYR1) in Malignant Hyperthermia: Genotype-Phenotype Correlation

Bernadette M. Manning, Kathleen A. Quane, Helle Ørding et al. · The American Journal of Human Genetics · 1998 · 135 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies

Kathleen A. Quane, Katherine E. Keating, Bernadette M. Manning et al. · Human Molecular Genetics · 1994 · 112 citations

Life Sciences, Genetics, Molecular Genetics +17