RQ
Rosaline Quinlivan
National Hospital for Neurology and Neurosurgery, University of London, University College London Medical School, University College London
Research areas: Biochemistry, Genetics and Molecular Biology · Molecular Biology · Muscle Physiology and Disorders · Neurogenetic and Muscular Disorders Research · Metabolism and Genetic Disorders
0000-0002-2306-4782
Employment
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National Hospital for Neurology and Neurosurgery Consultant in Neuromuscular Disease2010 - Present
Education
- 2000 - 2009
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University College London Medical School MBBS1980 - 1985
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University College London BSc hons1977 - 1980
Projects & Funding
Projects & funding information is unavailable.
Publications (437)
- 2.03P Long-term stabilization of function in Becker: sevasemten prevented functional decline up to 3.5 years in MESA open-label extension Save
- Biallelic Pathogenic Variants in PYGM Impair Retinal Glycogenolysis Causing a Range of Phenotypes Save
- 289th ENMC international workshop: Assessing and managing emerging AAV related toxicities after gene therapy for neuromuscular disorders, 26 September - 28 September 2025, Hoofddorp, The Netherlands Save
- Efficacy and safety of risdiplam in patients with type 1 spinal muscular atrophy: a 3-year open-label extension of the two-part, phase 2 FIREFISH trial Save
- The Effect of Corticosteroids on Pulmonary Function in a Large Cohort of Late Adolescents and Adults With Duchenne Muscular Dystrophy Save
- Transforming molecular neuropathology for adult brain tumour patients in the UK: Insights on implementation, adoption, and patient access (2021-2024) Save
- Acute rhabdomyolysis as the presenting symptom in two females with a DMD mutation Save
- Transforming Molecular Neuropathology for Adult Brain tumour Patients in the United Kingdom: Insights in Implementation, Adoption and Patient Access (2021-2024) Save
- Transition from childhood to adulthood in neuromuscular disorders: results from the ERN EURO-NMD survey Save
- Basket trials in rare diseases: a systematic review of current practices, methodological challenges, and future directions Save
- 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) Save
- Acute pancreatitis in a Duchenne muscular dystrophy patient on total parenteral nutrition Save
- BRAIN TUMOUR RESEARCH AND CLINICAL TRIALS ACTIVITY IN THE UK 2016-2024: INSIGHTS FROM THE TESSA JOWELL CENTRE OF EXCELLENCE PROGRAMME Save
- CANYON trial results: sevasemten, an investigational fast skeletal myosin inhibitor, reduced muscle damage biomarkers and stabilized function in BMD Save
- Clinical impact of supervised resistance training in patients with McArdle disease: a case series Save
- Clinical phenotypes of an adult population carrying mutations in the ryanodine receptor 1 (RYR1) gene Save
- Coordination of care for people with neuromuscular diseases: the sum is greater than the individual parts Save
- DMD 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 Save
- How a collaboration between clinicians and the patient community can change clinical care: the impact of DMD care UK guidelines on cardiac and respiratory care Save
- Neuropsychiatric assessment in adults with Duchenne muscular dystrophy Save