Rosaline C. M. Quinlivan

University College London Hospitals NHS Foundation Trust — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

50h-index9.9kcitations904works1.12yr avg
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Research Topics

Muscle Physiology and Disorders(135), Glycogen Storage Diseases and Myoclonus(112), Neurogenetic and Muscular Disorders Research(66), Genetic Neurodegenerative Diseases(65), Metabolism and Genetic Disorders(49)

Publications898 total

Transition from childhood to adulthood in neuromuscular disorders: results from the ERN EURO-NMD survey
Orphanet Journal of Rare Diseases·2025Open Access
DISP-15. Does it matter where you are treated? Insights from a national review of United Kingdom (UK) brain tumour treatment, care and research services (2020-2024)
Neuro-Oncology·2025Open Access
The united kingdom adult northstar network consensus recommendations of transition of osteoporosis care and management of osteoporosis in adults with duchenne muscular dystrophy
Endocrine Abstracts·2025
Transforming molecular neuropathology for adult brain tumour patients in the UK: Insights on implementation, adoption, and patient access (2021-2024)
Neuro-Oncology Practice·2025Open Access
622PDMD care UK five years on: progress update on a successful collaboration between the clinician and patient communities to improve standards of care in Duchenne muscular dystrophy
Neuromuscular Disorders·2025
613PAcute pancreatitis in a Duchenne muscular dystrophy patient on total parenteral nutrition
Neuromuscular Disorders·2025
614PCANYON trial results: sevasemten, an investigational fast skeletal myosin inhibitor, reduced muscle damage biomarkers and stabilized function in BMD
Neuromuscular Disorders·2025
631PThe Becker muscular dystrophy (BMD) hub: supporting care and clinical trial readiness for BMD
Neuromuscular Disorders·2025
336PThe McArdle disease physical activity paradox and insights into exercise adaptation: a case study on running with McArdle disease
Neuromuscular Disorders·2025
07INVCoordination of care for people with neuromuscular diseases: the sum is greater than the individual parts
Neuromuscular Disorders·2025
636PHow a collaboration between clinicians and the patient community can change clinical care: the impact of DMD care UK guidelines on cardiac and respiratory care
Neuromuscular Disorders·2025
335PClinical impact of supervised resistance training in patients with McArdle disease: a case series
Neuromuscular Disorders·2025
334PThe McArdle assessment of severity tool (MAST): validation of an innovative new tool to measure the clinical severity of patients with McArdle disease
Neuromuscular Disorders·2025
119PClinical phenotypes of an adult population carrying mutations in the ryanodine receptor 1 (RYR1) gene
Neuromuscular Disorders·2025
BRAIN TUMOUR RESEARCH AND CLINICAL TRIALS ACTIVITY IN THE UK 2016-2024: INSIGHTS FROM THE TESSA JOWELL CENTRE OF EXCELLENCE PROGRAMME
Neuro-Oncology·2025Open Access
650VPNeuropsychiatric assessment in adults with Duchenne muscular dystrophy
Neuromuscular Disorders·2025
256PSelf-reported activity levels and associated levels of personal meaning in adults with Duchenne muscular dystrophy: using the MAPA-F and EMAS to inform need for psychological intervention
Neuromuscular Disorders·2025
The united kingdom adult northstar network consensus recommendation of management of osteoporosis in adults with duchenne muscular dystrophy and transition to adult care
Endocrine Abstracts·2025
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study
Journal of Neuromuscular Diseases·2025Open Access
Preventing Cardiomyopathy in Duchenne Muscular Dystrophy: Long‐Term Follow‐Up of Patients in the Randomised, Placebo‐Controlled Drug‐Trial of Perindopril and Bisoprolol
European Journal of Neurology·2025· 2 citedOpen Access
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Frequent Co-authors

Heinz Jungbluth(13), Francesco Muntoni(12), Volker Straub(10), Caroline A. Sewry(10), Hugo Ten Cate(8), S. Robb(8), Stephen Abbs(7), Eugenio Mercuri(7), Susan Treves(6), Kate Bushby(6), Helen Roper(6), Elizabeth Wraige(6), R. Scalco(6), Maria Kinali(5), Kathryn N. North(5), Adnan Y. Manzur(5), Michela Guglieri(5), Michael G. Hanna(5), Emma Clement(4), R. Mein(4)