Ros Quinlivan

Ros Quinlivan

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Ros Quinlivan

Ros Quinlivan

Publications by authors named "Ros Quinlivan"

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No effect of triheptanoin on exercise performance in McArdle disease.

Ann Clin Transl Neurol 2019 Sep 14. Epub 2019 Sep 14.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/acn3.50863DOI Listing
September 2019

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.

Neuromuscul Disord 2019 Aug 19. Epub 2019 Aug 19.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.08.003DOI Listing
August 2019

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.

Mitochondrion 2019 Jul 8;47:294-297. Epub 2019 Feb 8.

MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15677249183017
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http://dx.doi.org/10.1016/j.mito.2019.02.004DOI Listing
July 2019

236th ENMC International Workshop Bone protective therapy in Duchenne muscular dystrophy: Determining the feasibility and standards of clinical trials Hoofddorp, The Netherlands, 1-3 June 2018.

Neuromuscul Disord 2019 Mar 12;29(3):251-259. Epub 2019 Jan 12.

MRC Centre for Neuromuscular Disease and Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2019.01.002DOI Listing
March 2019

Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).

Ophthalmology 2019 Feb 11;126(2):320-322. Epub 2018 Oct 11.

UCL Institute of Ophthalmology, University College London, London, UK; Genetics and Medical Retina Services, Moorfields Eye Hospital, London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183225
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http://dx.doi.org/10.1016/j.ophtha.2018.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347563PMC
February 2019

ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.

Neuromuscul Disord 2018 09 30;28(9):741-749. Epub 2018 Jun 30.

Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.05.012DOI Listing
September 2018

Resistance Exercise Training in McArdle Disease: Myth or Reality?

Case Rep Neurol Med 2018 30;2018:9658251. Epub 2018 Sep 30.

MRC Centre for Neuromuscular Diseases, Institute of Neurology, Queen Square, London, UK.

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https://www.hindawi.com/journals/crinm/2018/9658251/
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http://dx.doi.org/10.1155/2018/9658251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186374PMC
September 2018

GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).

Neuromuscul Disord 2018 04 10;28(4):346-349. Epub 2018 Jan 10.

MRC Centre for Neuromuscular Disease and Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2018.01.002DOI Listing
April 2018

Atypical periodic paralysis and myalgia: A novel phenotype.

Neurology 2018 01 3;90(5):e412-e418. Epub 2018 Jan 3.

From the MRC Centre for Neuromuscular Diseases (E.M., F.J., R.S.S., D.F., M.P., D.R.R., K.S., H.H., E.H., R.Q., J.L.H., M.G.H.), Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Neuromuscular Diseases Unit/ALS Clinic (C.N.), Kantonsspital St. Gallen, Switzerland; Neurogenetics Unit (R.S., H.H.) and Department of Neuropathology (J.L.H.), National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Human Genetics Laboratory Genetica (R.S.), Zurich, Switzerland; Genetics Department (R.M.), Viapath, Guy's Hospital, London; Wellcome Trust Centre for Mitochondrial Research (A.S.), University of Newcastle, Framlington Place, Newcastle Upon Tyne, UK; Institute of Pathology (E.H.), Belfast Health and Social Care Trust, Northern Ireland; Department of Neurology (J.P.), John Radcliffe Hospital, Oxford, UK; Departments of Biomedicine and Anesthesia (S.T.), Basel University Hospital, Switzerland; Department of Life Sciences (S.T.), Microbiology and Applied Pathology Section, University of Ferrara, Italy; Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina Children's Hospital, St. Thomas' Hospital; and Department of Basic and Clinical Neuroscience (H.J.), Institute of Psychiatry, Psychology and Neuroscience, and Randall Division of Cell and Molecular Biophysics (H.J.), Muscle Signalling Section, King's College, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791790PMC
January 2018

211th ENMC International Workshop:: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17-19 April 2015, Naarden, The Netherlands.

Neuromuscul Disord 2017 12 14;27(12):1143-1151. Epub 2017 Sep 14.

Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, CIBERER, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1016/j.nmd.2017.09.002DOI Listing
December 2017

Misdiagnosis is an important factor for diagnostic delay in McArdle disease.

Neuromuscul Disord 2017 Sep 3;27(9):852-855. Epub 2017 May 3.

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH, UK.

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http://dx.doi.org/10.1016/j.nmd.2017.04.013DOI Listing
September 2017

Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?

Am J Case Rep 2017 Jan 5;18:17-21. Epub 2017 Jan 5.

MRC Centre for Neuromuscular Diseases and Division of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5228759PMC
http://dx.doi.org/10.12659/ajcr.900970DOI Listing
January 2017

Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.

J Neuropathol Exp Neurol 2016 12;75(12):1171-1178

From the Department of Neurology, Southmead Hospital, Bristol, UK (SB); Department of Neuropathology, Royal Victoria Hospital, N. Ireland, Belfast, Northern Ireland (EGH); UCL Institute of Neurology, Queen Square, London, UK (QG, HH, JLH); MRC Centre for Neuromuscular Diseases, University College Hospitals, London, UK (MP, RQ, MGH); Department of Neurology, Queen Elizabeth Hospital, Birmingham, UK (SJ); Department of Cellular Pathology, Queen Elizabeth Hospital, Birmingham, UK (EC); King's College London, MRC London Neurodegenerative Diseases Brain Bank, London, UK (SA-S); Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK (CAS); and Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK (DB)

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http://dx.doi.org/10.1093/jnen/nlw096DOI Listing
December 2016

McArdle Disease Misdiagnosed as Meningitis.

Am J Case Rep 2016 Nov 30;17:905-908. Epub 2016 Nov 30.

MRC Centre for Neuromuscular Diseases and Division of Neuropathology, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131610PMC
http://dx.doi.org/10.12659/ajcr.900967DOI Listing
November 2016

Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?

Arch Dis Child 2016 10 31;101(10):957-61. Epub 2016 May 31.

Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/archdischild-2015-308825DOI Listing
October 2016

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

BMJ Open Sport Exerc Med 2016 7;2(1):e000151. Epub 2016 Sep 7.

Department of Neurology , Radboud University Medical Centre , Nijmegen , The Netherlands.

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http://bmjopensem.bmj.com/lookup/doi/10.1136/bmjsem-2016-000
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http://dx.doi.org/10.1136/bmjsem-2016-000151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117086PMC
September 2016

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Neuromuscul Disord 2016 08 11;26(8):504-10. Epub 2016 May 11.

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2016.05.006DOI Listing
August 2016

Skeletal muscle disorders of glycogenolysis and glycolysis.

Nat Rev Neurol 2016 07 27;12(7):393-402. Epub 2016 May 27.

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, 8-11 Queen Square, London WC1 3BG, UK.

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http://www.nature.com/articles/nrneurol.2016.75
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http://dx.doi.org/10.1038/nrneurol.2016.75DOI Listing
July 2016

Report on the EUROMAC McArdle Exercise Testing Workshop, Madrid, Spain, 11-12 July 2014.

Neuromuscul Disord 2015 Sep 27;25(9):739-45. Epub 2015 May 27.

Vall D'Hebron Research Institute and Centre for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1016/j.nmd.2015.05.009DOI Listing
September 2015

Assessment and management of facial nerve palsy.

BMJ 2015 Sep 16;351:h3725. Epub 2015 Sep 16.

Ear, Nose, and Throat Department, Norfolk and Norwich University Hospital NHS Trust, Norwich, UK.

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http://dx.doi.org/10.1136/bmj.h3725DOI Listing
September 2015

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Eur J Hum Genet 2015 May 13;23(5):610-5. Epub 2014 Aug 13.

1] North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK [2] Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1038/ejhg.2014.162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402637PMC
May 2015

Rhabdomyolysis: a genetic perspective.

Orphanet J Rare Dis 2015 May 2;10:51. Epub 2015 May 2.

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://www.ojrd.com/content/10/1/51
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http://dx.doi.org/10.1186/s13023-015-0264-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4522153PMC
May 2015

Heart rate and perceived muscle pain responses to a functional walking test in McArdle disease.

J Sports Sci 2014 14;32(16):1561-9. Epub 2014 Apr 14.

a Department of Clinical Sciences and Nutrition , University of Chester , Chester , UK.

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http://dx.doi.org/10.1080/02640414.2014.906045DOI Listing
March 2015

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Am J Hum Genet 2014 Nov 30;95(5):590-601. Epub 2014 Oct 30.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225647PMC
November 2014

Innovative care model for patients with complex muscle diseases.

Curr Opin Neurol 2014 Oct;27(5):607-13

aMRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery bDubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1097/WCO.0000000000000132DOI Listing
October 2014

Emotionally-intense situations can result in rhabdomyolysis in McArdle disease.

BMJ Case Rep 2014 Oct 7;2014. Epub 2014 Oct 7.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4187416PMC
http://dx.doi.org/10.1136/bcr-2013-203272DOI Listing
October 2014

From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease.

Arq Neuropsiquiatr 2014 Jul;72(7):538-41

MRC Centre for Neuromuscular Diseases and Division of Neuropathology, University College London Institute of Neurology, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1590/0004-282x20140062DOI Listing
July 2014

Scoliosis in Duchenne muscular dystrophy (DMD).

Neuromuscul Disord 2013 Aug 6;23(8):611-7. Epub 2013 Jun 6.

Rancho Los Amigos National Rehabilitation Center, Downey, CA, USA.

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http://dx.doi.org/10.1016/j.nmd.2013.05.003DOI Listing
August 2013

Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy.

J Neurol Neurosurg Psychiatry 2013 Jun 18;84(6):698-705. Epub 2012 Dec 18.

Dubowitz Neuromuscular Centre, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://jnnp.bmj.com/content/84/6/698.full.pdf
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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp-2012-303902
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http://dx.doi.org/10.1136/jnnp-2012-303902DOI Listing
June 2013

Muscle MRI in Bethlem myopathy.

BMJ Case Rep 2013 Apr 16;2013. Epub 2013 Apr 16.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/bcr-2013-008596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3645630PMC
April 2013

Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon.

Neuromuscul Disord 2013 Jan 20;23(1):43-51. Epub 2012 Jul 20.

Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital, Oswestry, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966120053
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http://dx.doi.org/10.1016/j.nmd.2012.06.348DOI Listing
January 2013

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.

J Neurol Neurosurg Psychiatry 2012 Dec 31;83(12):1204-9. Epub 2012 Jul 31.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://jnnp.bmj.com/content/early/2012/07/30/jnnp-2012-30305
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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp-2012-303055
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http://dx.doi.org/10.1136/jnnp-2012-303055DOI Listing
December 2012

Myopathic causes of exercise intolerance with rhabdomyolysis.

Dev Med Child Neurol 2012 Oct 23;54(10):886-91. Epub 2012 May 23.

MRC Centre for Neuromuscular Diseases, Institute of Neurology, National Hospital, London, UK.

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http://doi.wiley.com/10.1111/j.1469-8749.2012.04320.x
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http://dx.doi.org/10.1111/j.1469-8749.2012.04320.xDOI Listing
October 2012

A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy.

Neuromuscul Disord 2012 Mar 22;22(3):225-30. Epub 2011 Nov 22.

Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital NHS Foundation Trust, Oswestry, Shropshire SY10 7AG, UK.

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http://dx.doi.org/10.1016/j.nmd.2011.10.002DOI Listing
March 2012

Best practice in Duchenne muscular dystrophy.

Authors:
Ros Quinlivan

Neuromuscul Disord 2010 Mar 4;20(3):217; author reply 218-9. Epub 2010 Mar 4.

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http://dx.doi.org/10.1016/j.nmd.2010.02.007DOI Listing
March 2010

High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.

Ann Hum Genet 2009 May;73(Pt 3):292-7

Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1111/j.1469-1809.2009.00512.xDOI Listing
May 2009