Emma Matthews

Honorary Reader

St George’s, University of London

United Kingdom

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About

Emma Matthews is an Honorary Reader at St George's University of London, UK. Her research areas include skeletal muscle channelopathies, neuropathic pain disorders, and cardiac dysfunction related to gene mutations. She has published recent articles on various genetic disorders and their clinical implications, contributing significantly to the understanding of muscle diseases and precision therapy.

Articles (12)

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2024

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2023

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2023

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2023

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2022

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2022

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2022

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2022

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2022

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2022

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2022

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2022

Collaborators (9)

Georgios Baskozos

University of Oxford

UNITED KINGDOM

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Doreen Fialho

UNITED KINGDOM

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Luis Lopes

Associate Professor

University College London

UNITED KINGDOM

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Alan Pittman

University College London

UNITED KINGDOM

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Andreas Themistocleous

University of Oxford

UNITED KINGDOM

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Andreia Nunes

Research Assistant Professor

University of Nevada Reno

UNITED STATES

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Sameer Zuberi

Honorary Professor of Paediatric Neurology

University of Glasgow

UNITED KINGDOM

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Andreas Brunklaus

UNITED KINGDOM

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Stephanie Schorge

Professor

UNITED KINGDOM

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Emma Matthews

Research Interests

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About

Articles (12)

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

Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.

Care Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies

Muscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation

Integrin a7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.

Gene variant effects across sodium channelopathies predict function and guide precision therapy

Integrin α7 Mutations Are Associated With Adult‐Onset Cardiac Dysfunction in Humans and Mice

Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.

Refocusing SIDS research: Is butylcholinesterase a predictive biomarker?

Accelerating the genetic diagnosis of neurological disorders presenting with episodic apnoea in infancy.

Accelerating the genetic diagnosis of neurological disorders presenting with episodic apnoea in infancy

The long exercise test as a functional marker of periodic paralysis

Collaborators (9)

Georgios Baskozos

Doreen Fialho

Luis Lopes

Alan Pittman

Andreas Themistocleous

Andreia Nunes

Sameer Zuberi

Andreas Brunklaus

Stephanie Schorge

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