Susan Treves

Queen Square
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 64 publications

RYR1 mutations linked to malignant hyperthermia susceptibility are associated with phenotypic changes in human B-lymphocytes.

RYR1 mutations linked to malignant hyperthermia susceptibility are associated with phenotypic changes in human B-lymphocytes.

Journal: Frontiers in immunology

Published: May 09, 2026

Patient-reported symptoms, fatigue, functional impairment and quality of life in RYR1-related malignant hyperthermia and exertional rhabdomyolysis.

Patient-reported symptoms, fatigue, functional impairment and quality of life in RYR1-related malignant hyperthermia and exertional rhabdomyolysis.

Journal: Neuromuscular disorders : NMD

Published: April 14, 2026

Sarco/endoplasmatic reticulum calcium ATPase activity in healthy muscle and Brody disease.

Sarco/endoplasmatic reticulum calcium ATPase activity in healthy muscle and Brody disease.

Journal: Biochemistry and biophysics reports

Published: October 18, 2025

5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy.

5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy.

Journal: Human molecular genetics

Published: October 28, 2024

Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis.

Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis.

Journal: The Journal of physiology

Published: October 10, 2024

Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire study.

Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire study.

Journal: Neuromuscular disorders : NMD

Published: October 09, 2024

A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.

A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.

Journal: The Journal of general physiology

Published: September 14, 2023

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome.

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome.

Journal: JCI insight

Published: August 16, 2023

Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.

Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.

Journal: Neuromuscular disorders : NMD

Published: June 28, 2023

Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.

Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.

Journal: Journal of neuromuscular diseases

Published: May 08, 2023

Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies.

Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies.

Journal: eLife

Published: September 21, 2022

Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.

Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.

Journal: Brain communications

Published: May 30, 2022

Showing 1-12 of 64

Last Updated: 09/26/2026