Heinz J. Jungbluth

Guy's And St
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 196 publications

READYCOM: protocol for a 2-year prospective natural history and cross-sectional muscle-fatigability study for improving trial readiness in congenital myopathies.

READYCOM: protocol for a 2-year prospective natural history and cross-sectional muscle-fatigability study for improving trial readiness in congenital myopathies.

Journal: BMJ open

Published: August 04, 2026

Clinical and biochemical footprints of inherited disorders of autophagy.

Clinical and biochemical footprints of inherited disorders of autophagy.

Journal: Molecular genetics and metabolism

Published: June 30, 2026

Reply to: residual risk after familial RYR1 testing: interpreting malignant hyperthermia susceptibility in the context of regional testing strategies.

Reply to: residual risk after familial RYR1 testing: interpreting malignant hyperthermia susceptibility in the context of regional testing strategies.

Journal: European journal of human genetics : EJHG

Published: June 03, 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

Biallelic titin truncation disrupts sarcomere assembly and function in patient-derived iPSC-cardiomyocytes.

Biallelic titin truncation disrupts sarcomere assembly and function in patient-derived iPSC-cardiomyocytes.

Journal: Journal of molecular and cellular cardiology

Published: March 13, 2026

Thermoregulation during exercise under controlled hot ambient conditions is comparable in individuals with a history of exertional heat stroke, RYR1-related malignant hyperthermia, and healthy controls.

Thermoregulation during exercise under controlled hot ambient conditions is comparable in individuals with a history of exertional heat stroke, RYR1-related malignant hyperthermia, and healthy controls.

Journal: Temperature (Austin, Tex.)

Published: January 22, 2026

Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of care.

Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of care.

Journal: Neuromuscular disorders : NMD

Published: December 22, 2025

EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders.

EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders.

Journal: European journal of human genetics : EJHG

Published: November 28, 2025

Humidity impacts volatile anesthetic and heat responses of malignant hyperthermia susceptible mice.

Humidity impacts volatile anesthetic and heat responses of malignant hyperthermia susceptible mice.

Journal: Skeletal muscle

Published: October 28, 2025

Long-term evaluation of post restorations: Results from a practice-based study with up to 20 years of follow-up.

Long-term evaluation of post restorations: Results from a practice-based study with up to 20 years of follow-up.

Journal: Journal of dentistry

Published: October 16, 2025

The space-time continuum in neurological disorders of the autophagosome-lysosome fusion machinery.

The space-time continuum in neurological disorders of the autophagosome-lysosome fusion machinery.

Journal: Autophagy reports

Published: October 16, 2025

Letter Concerning Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease.

Letter Concerning Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease.

Journal: Annals of neurology

Published: August 23, 2025

Showing 1-12 of 196

Last Updated: 09/26/2026