Professional background

Ros Quinlivan obtained a BSc in psychology before going onto to study medicine at UCL. Her post-graduate training was in paediatrics at London Teaching Hospitals. She was the first clinical research fellow in neuromuscular disease at Guy's Hospital, working across paediatric and adult specialties.

She was awarded an MD by the University of London for her research into the cardiomyopathy of Duchenne and Becker Muscular Dystrophy. She was appointed a consultant in 1995 in the West Midlands, where she was director of the Wolfson Centre For Inherited Neuromuscular Disease.

She moved to UCLH in 2010, where she leads the transition service for adolescents and young adults with neuromuscular disease at GOSH and Queen Square and is clinical lead for the nationally commissioned service for McArdle disease and related disorders. She is joint co-ordinating editor for the Cochrane Neuromuscular Disease Group.

Research interests

Clinical trials in:

  • Inherited early onset muscular dystrophies and myopathies
  • Duchenne muscular dystrophy
  • McArdle disease and related glycogen storage disorders


Alejando Lucia, Ros Quinlivan, Andrew Wakelin, Miguel Martin, Antoni Andreu. The ‘McArdle paradox’: exercise is good advice for the exercise intolerant. Br J Sports Med 2012 In press

Ros Quinlivan, Heinz Jungbluth. Myopathic causes of exercise intolerance with rhabdomyolysis Dev Med Child Neurol. 2012 In Press

Klein A. Lillis S. Munteanu I. Scoto M. Zhou H. Quinlivan R. Straub V. Manzur AY. Roper H. Jeannet PY. Rakowicz W. Jones DH. Jensen UB. Wraige E. Trump N. Schara U. Lochmuller H. Sarkozy A. Kingston H. Norwood F. Damian M. Kirschner J. Longman C. Roberts M. Auer-Grumbach M. Hughes I. Bushby K. Sewry C. Robb S. Abbs S. Jungbluth H. Muntoni F. Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Human Mutation. 33(6):981-8, 2012 Jun.

Sewry CA. Quinlivan RC. Squier W. Morris GE. Holt I.A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy. Neuromuscular Disorders. 22(3):225-30, 2012 Mar.

Jain RK. Jayawant S. Squier W. Muntoni F. Sewry CA. Manzur A. Quinlivan R. Lillis S. Jungbluth H. Sparrow JC. Ravenscroft G. Nowak KJ. Memo M. Marston SB. Laing NG. Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. Neurology. 78(14):1100-3, 2012 Apr 3.

Quinlivan R. Vissing J. Hilton-Jones D. Buckley J. Physical training for McArdle disease.Cochrane Database of Systematic Reviews. 12:CD007931, 2011.

Pandey R. Chandratre S. Roberts A. Dwyer JS. Sewry C. Quinlivan RCentral core myopathy with RYR1 mutation masks 5q spinal muscular atrophy. European Journal of Paediatric Neurology. 15(1):70-3, 2011 Jan.

Scoto M. Cirak S. Mein R. Feng L. Manzur AY. Robb S. Childs AM. Quinlivan RM. Roper H. Jones DH. Longman C. Chow G. Pane M. Main M. Hanna MG. Bushby K. Sewry C. Abbs S. Mercuri E. Muntoni F. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology. 76(24):2073-8, 2011 Jun 14

Mitsuhashi S. Ohkuma A. Talim B. Karahashi M. Koumura T. Aoyama C. Kurihara M. Quinlivan R. Sewry C. Mitsuhashi H. Goto K. Koksal B. Kale G. Ikeda K. Taguchi R. Noguchi S. Hayashi YK. Nonaka I. Sher RB. Sugimoto H. Nakagawa Y. Cox GA. Topaloglu H. Nishino I. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. American Journal of Human Genetics. 88(6):845-51, 2011 Jun 10.

Absoud M. Brueton L. Gupta R. Quinlivan R. Wassmer E.Hereditary motor sensory neuropathy (type 1) presenting with transient and persistent central nervous system manifestations: a novel genetic mutation. Neurology. 76(4):346-53, 2011 Jan 25.10.Kinali M. Arechavala-Gomeza V. Cirak S. Glover A. Guglieri M. Feng L. Hollingsworth KG. Hunt D. Jungbluth H. Roper HP. Quinlivan RM. Gosalakkal JA. Jayawant S. Nadeau A. Hughes-Carre L. Manzur AY. Mercuri E. Morgan JE. Straub V. Bushby K. Sewry C. Rutherford M. Muntoni F.Muscle histology vs MRI in Duchenne muscular dystrophy. Neurology. 76(4):346-53, 2011 Jan 25.

N Thompson, R Quinlivan Muscle Disorders In: Neurological Physiotherapy. Edited by Maria Stokes. 3rd Edition Mosby Press 2011

Treves S. Vukcevic M. Jeannet PY. Levano S. Girard T. Urwyler A. Fischer D. Voit T. Jungbluth H. Lillis S. Muntoni F. Quinlivan R. Sarkozy A. Bushby K. Zorzato F.Human Molecular Genetics. 20(3):589-600, 2011 Feb 1.

Ian Holt, Ros Quinlivan, Jillian Coutou, Darren Monkton, Glenn Morris The use of buccal cells for rapid diagnosis of myotonic dystrophy type 1 Translational Neuroscience 2010;1(3):195-199

Quinlivan R. Martinuzzi A. Schoser B. Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). Update of Cochrane Database Syst Rev. 2008;(2):CD003458 Cochrane Database of Systematic Reviews. (12):CD003458, 2010.

Wilmshurst JM. Lillis S. Zhou H. Pillay K. Henderson H. Kress W. Muller CR. Ndondo A. Cloke V. Cullup T. Bertini E. Boennemann C. Straub V. Quinlivan R. Dowling JJ. Al-Sarraj S. Treves S. Abbs S. Manzur AY. Sewry CA. Muntoni F. Jungbluth H. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Annals of Neurology. 68(5):717-26, 2010 Nov.

Quinlivan R. Buckley J. James M. Twist A. Ball S. Duno M. Vissing J. Bruno C. Cassandrini D. Roberts M. Winer J. Rose M. Sewry C. McArdle disease: a clinical review. Journal of Neurology, Neurosurgery & Psychiatry. 81(11):1182-8, 2010 Nov.

Quinlivan R. Shaw N. Bushby K. 170th ENMC International Workshop: bone protection for corticosteroid treated Duchenne muscular dystrophy. 27-29 November 2009, Naarden, The Netherlands. Neuromuscular Disorders. 20(11):761-9, 2010 NovRoper H.

Quinlivan R. Workshop Participants. Implementation of "the consensus statement for the standard of care in spinal muscular atrophy" when applied to infants with severe type 1 SMA in the UK.
Archives of Disease in Childhood. 95(10):845-9, 2010 Oct.Quinlivan R. Best practice in Duchenne muscular dystrophy. Neuromuscular Disorders.2010; 20(3):217R.

Quinlivan, R. Beynon Tarui’s disease. In: Encyclopaedic reference of molecular mechanisms of disease. Edited by Dr Florian Lang. Springer Press 2009

R.Beynon, R.Quinlivan, C.SewryMcArdle Disease.  In: Encyclopaedic reference of molecular mechanisms of disease. Edited by Dr Florian Lang. Springer Press 2009

Jimenez-Mallebrera C. Torelli S. Feng L. Kim J. Godfrey C. Clement E. Mein R. Abbs S. Brown SC. Campbell KP. Kroger S. Talim B. Topaloglu H. Quinlivan R. Roper H. Childs AM. Kinali M. Sewry CA. Muntoni F. A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
Brain Pathology. 19(4):596-611, 2009 Oct.