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List of works by Emma Matthews

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

scientific article published on 3 January 2018

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

scientific article published on 23 December 2016

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

scientific article published on 5 April 2018

Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome

scientific article published on 02 June 2020

Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene

scientific article published in 2024

National registry for sudden unexpected deaths of infants and children in England: why do we need one and do families want one?

scientific article published on 20 April 2019

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

scientific article published on 01 July 2019

Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multi-Center Molecular Autopsy Cohort of Sudden Unexplained Death Victims

scientific article published on 15 November 2020

Sodium channel myotonia may be associated with high-risk brief resolved unexplained events

scientific article published on 31 March 2020

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