Area of research
Molecular Biology · Cellular and Molecular Neuroscience
Research interest
Research focused on RYR1 and Sodium channel, with related work in Missense mutation, Periodic paralysis, Hypokinesia. Notable publications include 'Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy', 'Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy', and 'Gene variant effects across sodium channelopathies predict function and guide precision therapy'.
Gene variant effects across sodium channelopathies predict function and guide precision therapy
Making sense of missense variants in TTN-related congenital myopathies
The long exercise test as a functional marker of periodic paralysis
Guidelines on clinical presentation and management of nondystrophic myotonias
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study
Atypical periodic paralysis and myalgia
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Loss-of-function mutations in<i>SCN4A</i>cause severe foetal hypokinesia or ‘classical’ congenital myopathy