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Rosaline C. M. Quinlivan | doi.page

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Rosaline C. M. Quinlivan

University College London Hospitals NHS Foundation Trust(GB)UK Dementia Research Institute(GB)MRC Prion Unit(GB)National Hospital for Neurology and Neurosurgery(GB)University College London(GB)

Publications by Year

Research Areas

Muscle Physiology and Disorders, Glycogen Storage Diseases and Myoclonus, Genetic Neurodegenerative Diseases, Neurogenetic and Muscular Disorders Research, Metabolism and Genetic Disorders

Most-Cited Works

→ Thalassemia Syndromes(2009)475 cited
→ Consensus on Exercise Reporting Template (CERT): Modified Delphi Study(2016)474 cited
→ Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan(2007)439 cited
→ Ataluren treatment of patients with nonsense mutation dystrophinopathy(2014)426 cited
→ Changes in Spirometry Over Time as a Prognostic Marker in Patients with Duchenne Muscular Dystrophy(2001)280 cited
→ RYR1 mutations are a common cause of congenital myopathies with central nuclei(2010)263 cited

→ Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy(2012)

256 cited

→ Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan(2013)236 cited

→ Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial(2021)209 cited

→ Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis(2013)197 cited