Bernadette M. Manning

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

C. Doriguzzi, U. Linz, K. Keating, 1993, Nature Genetics.

Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.

N. Monnier, J. Lunardi, K. Keating, 1994, Genomics.

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

G. Comi, M. Lehane, A. Urwyler, 1998, American journal of human genetics.

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.

M. Lehane, A. Urwyler, K. Keating, 1994, Human molecular genetics.