Elizabeth M. Harris

Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 30 publications

Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.

Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: October 31, 2025

Touching the invisible: exploring intracellular host-pathogen interactions through multisensory art.

Touching the invisible: exploring intracellular host-pathogen interactions through multisensory art.

Journal: Immunology and cell biology

Published: April 23, 2025

Multicentre audit reviewing reporting and management of patients with incidentally identified structural aberrations involving high actionability cancer susceptibility genes.

Multicentre audit reviewing reporting and management of patients with incidentally identified structural aberrations involving high actionability cancer susceptibility genes.

Journal: Journal of medical genetics

Published: March 31, 2025

Assessing the Relationship of Quality of Life With Functional Status in a Large Cohort of Adult Patients With Neuromuscular Disorders.

Assessing the Relationship of Quality of Life With Functional Status in a Large Cohort of Adult Patients With Neuromuscular Disorders.

Journal: Neurology. Clinical practice

Published: February 10, 2025

Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines.

Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines.

Journal: Journal of neurology

Published: February 07, 2025

Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models.

Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models.

Journal: European journal of human genetics : EJHG

Published: January 22, 2025

Levels of exercise exposure among people living with neuromuscular disorders: lessons learned from real-world data.

Levels of exercise exposure among people living with neuromuscular disorders: lessons learned from real-world data.

Journal: Neuromuscular disorders : NMD

Published: November 17, 2024

EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling.

EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling.

Journal: Brain : a journal of neurology

Published: October 10, 2024

Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy.

Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy.

Journal: Neuromuscular disorders : NMD

Published: August 20, 2024

An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.

An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.

Journal: International journal of molecular sciences

Published: June 15, 2024

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.

Journal: Journal of medical genetics

Published: March 03, 2024

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement.

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement.

Journal: medRxiv : the preprint server for health sciences

Published: February 19, 2024

Showing 1-12 of 30

Last Updated: 09/26/2026