Stella de Leon

Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

Junichi Fujii, Kinya Otsu, Francesco Zorzato et al. · Science · 1991 · 1.5K citations

Agriculture, Animal Sciences, Veterinary Physiology +17

A mutation in the human ryanodine receptor gene associated with central core disease

Yilin Zhang, Hai Shiene Chen, Vijay K. Khanna et al. · Nature Genetics · 1993 · 328 citations

Life Sciences, Genetics, Molecular Genetics +10

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

Elizabeth F. Gillard, Kinya Otsu, Junichi Fujii et al. · Genomics · 1991 · 317 citations

Life Sciences, Biochemistry, Cell Signaling +6

Sarcolipin regulates sarco(endo)plasmic reticulum Ca ²⁺ -ATPase (SERCA) by binding to transmembrane helices alone or in association with phospholamban

Michio Asahi, Yuji Sugita, Kazimierz Kurzydlowski et al. · Proceedings of the National Academy of Sciences · 2003 · 155 citations

Life Sciences, Biochemistry, Molecular Biology +15

Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia

Elizabeth F. Gillard, Kinya Otsu, Junichi Fujii et al. · Genomics · 1992 · 134 citations

Life Sciences, Genetics, Molecular Genetics +9