Elizabeth F. Gillard

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 · 316 citations

Molecular Pharmacology, Molecular Physiology, Hyperthermia +10

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene.

Elizabeth F. Gillard, Jeffrey S. Chamberlain, E. Gordon Murphy et al. · PubMed · 1989 · 186 citations

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

Malignant Hyperthermia, Molecular Physiology, Signal Transduction +5

A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene

Margit Burmeister, Anthony P. Monaco, Elizabeth F. Gillard et al. · Genomics · 1988 · 103 citations

Mendelian Disorder, Genetic Disorder, Medicine +7

Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels

Andrea Ballabio, Rosalba Carrozzo, Giancarlo Parenti et al. · Genomics · 1989 · 102 citations

Unrelated Patients, Biochemistry, Inherited Metabolic Disease +6