Rosaline M. Quinlivan

Queen Square
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 29 publications

Can a modified ketogenic diet be a nutritional strategy for patients with McArdle disease? Results from a randomized, single-blind, placebo-controlled, cross-over study.

Can a modified ketogenic diet be a nutritional strategy for patients with McArdle disease? Results from a randomized, single-blind, placebo-controlled, cross-over study.

Journal: Clinical nutrition (Edinburgh, Scotland)

Published: May 05, 2023

Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.

Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.

Journal: Neurology

Published: November 29, 2022

A systematic review and qualitative synthesis of the experiences of parents of individuals living with Duchenne muscular dystrophy.

A systematic review and qualitative synthesis of the experiences of parents of individuals living with Duchenne muscular dystrophy.

Journal: Disability and rehabilitation

Published: April 18, 2022

Age at diagnosis for Duchenne muscular dystrophy: Why we must do better.

Age at diagnosis for Duchenne muscular dystrophy: Why we must do better.

Journal: Muscle & nerve

Published: April 13, 2022

Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort.

Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort.

Journal: Frontiers in pediatrics

Published: April 01, 2022

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.

Journal: Nature communications

Published: March 14, 2022

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Journal: The New England journal of medicine

Published: November 10, 2021

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Journal: BMJ (Clinical research ed.)

Published: November 04, 2021

Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study.

Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study.

Journal: Journal of inherited metabolic disease

Published: July 19, 2021

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Journal: Brain : a journal of neurology

Published: June 04, 2021

Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study.

Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study.

Journal: Muscle & nerve

Published: April 28, 2021

The phenotypic and genotypic features of a Scottish cohort with McArdle disease.

The phenotypic and genotypic features of a Scottish cohort with McArdle disease.

Journal: Neuromuscular disorders : NMD

Published: February 16, 2021

Showing 1-12 of 29

Last Updated: 09/26/2026