S. Hamilton

217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016

F. Muntoni, J. Dowling, C. Bönnemann, 2016, Neuromuscular Disorders.

Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility

S. Jung, J. Dowling, M. Shaw, 2022, Nature Communications.

Improving awareness of nonanesthesia-related malignant hyperthermia presentations: a tale of two brothers.

P. Deuster, N. Sambuughin, S. Muldoon, 2014, A & A case reports.

Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility

B. Brandom, O. Sizova, D. Maclennan, 2014, Molecular genetics & genomic medicine.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human molecular genetics.

C.O.5 SEPN1-related myopathy: A defect in redox regulation

A. Beggs, M. Ronan, B. Moghadaszadeh, 2007, Neuromuscular Disorders.

Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia

L. Tallon, Shuishu Wang, Xinyue Liu, 2013, Journal of Human Genetics.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human molecular genetics.