W. Mortier

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

Kathleen A. Quane, Jasmine Healy, Katherine E. Keating et al. · Nature Genetics · 1993 · 354 citations

Life Sciences, Genetics, Molecular Genetics +11

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

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

Regina C. Betz, Benedikt Schoser, Dagmar Kasper et al. · Nature Genetics · 2001 · 210 citations

Natural Sciences, Genetics, Molecular Genetics +16

Creatine Therapy in Myophosphorylase Deficiency (McArdle Disease)

Matthias Vorgerd, Torsten Grehl, M. Jäger et al. · Archives of Neurology · 2000 · 151 citations

Life Sciences, Pharmacotherapy, Bioenergetics +13

A common mutation (ε1267delG) in congenital myasthenic patients of Gypsy ethnic origin

Angela Abicht, Rolf Stucka, Veronika Karcagi et al. · Neurology · 1999 · 108 citations

Medicine, Genetics, Molecular Genetics +17