Emma Matthews

14PUBLICATIONS
59CO-AUTHORS
Adolescent healthNeurology and neuromuscular diseasesDynamics, vibration and vibration controlNeonatologySensory systems
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (14)

|Sep 12, 2026
Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathy.

|Sep 05, 2026
Treatment updates in myotonic disorders.

|Feb 26, 2026
Prospective Study of Video Hand Opening Time as a Quantitative Measurement of Myotonia in Patients With Myotonic Dystrophy Type 1.

Kristofoor E Leeuwenberg, Valeria A Sansone, Johanna Hamel

|Feb 19, 2024
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene.

Emma Matthews, Ella F Whittle, Faraan Khan

|Mar 10, 2023
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.

Andreas C Themistocleous, Georgios Baskozos, Iulia Blesneac

|Nov 29, 2022
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.

Enrico Bugiardini, Andreia M Nunes, Ariany Oliveira-Santos

Pageof 3

Frequent Collaborators

2 joint publications

Michael G Hanna

2 joint publications

Jeffrey M Statland

2 joint publications

Rahul Phadke

1 joint publications

Kristofoor E Leeuwenberg