Publications by authors named "Adnan Y Manzur"

38Publications

Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.

Ann Clin Transl Neurol 2020 11 10;7(11):2288-2296. Epub 2020 Oct 10.

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

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November 2020

Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study.

Chest 2020 Oct 7;158(4):1606-1616. Epub 2020 May 7.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, England; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, England. Electronic address:

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October 2020

Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.

J Pediatr 2017 09 26;188:181-185.e6. Epub 2017 Jun 26.

Dubowitz Neuromuscular Center and MRC Center for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.

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September 2017

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

Hum Mol Genet 2017 01;26(2):320-332

Departments of Biomedicine and Anesthesia, Basel University Hospital, Basel University, Basel, Switzerland.

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January 2017

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.

Neurology 2016 Oct 14;87(15):1607-1612. Epub 2016 Sep 14.

From the MRC Centre for Neuromuscular Diseases (A.H., P.J.T., M.L., M.G.H., J.C.B., H.H., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Department of Human Genetics and Hussman Institute for Human Genomics (M.A.G., S.Z.), Miller School of Medicine, University of Miami; The Genesis Project Foundation (M.A.G.), Miami, FL; The Dubowitz Neuromuscular Centre (F.M., A.Y.M.), UCL Institute of Child Health, London; and Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, Norwich, UK.

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October 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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August 2016

Corticosteroids for the treatment of Duchenne muscular dystrophy.

Cochrane Database Syst Rev 2016 May 5(5):CD003725. Epub 2016 May 5.

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

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May 2016

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials.

J Neurol Neurosurg Psychiatry 2016 Feb 2;87(2):149-55. Epub 2015 Mar 2.

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

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February 2016

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Neurology 2015 Feb 21;84(7):668-79. Epub 2015 Jan 21.

From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.

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February 2015

Congenital myopathies: Natural history of a large pediatric cohort.

Neurology 2015 Jan 26;84(1):28-35. Epub 2014 Nov 26.

From the Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Disorders (I.C., M.S., A.Y.M., S.A.R., V.G., C.S., F.M.), University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, UK; Neuromuscular Unit (I.C.), Department of Neurological Sciences, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Dino Ferrari Centre, Milan, University of Milan; Muscle Pathology and Neuroimmunology Unit (L.M.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy; DNA Laboratory (T.C., M.Y.), GSTS Pathology, Guy's Hospital, London; University College London Department of Neurology (R.P.), National Hospital for Neurology and Neurosurgery, London; Wolfson Centre for Inherited Neuromuscular Diseases RJAH (C.S.), Oswestry; Department of Paediatric Neurology (H.J.), Evelina Children's Hospital, London; Randall Division for Cell and Molecular Biophysics (H.J.), Muscle Signalling Section, King's College, London; and Clinical Neuroscience Division (H.J.), IoP, London, UK.

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January 2015

DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.

Neuromuscul Disord 2013 Nov 3;23(11):883-91. Epub 2013 Jul 3.

Department of Paediatric Neurology, University Children's Hospital, Zurich, Switzerland; Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, UK. Electronic address:

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November 2013

Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report.

Pediatr Rheumatol Online J 2013 May 3;11(1):19. Epub 2013 May 3.

Dubowitz Neuromuscular Centre, 30 Guilford Street, London, WC1N 1EH, UK.

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May 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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June 2013

The multiple phenotypes of arthrogryposis multiplex congenita with reference to the neurogenic variant.

Eur J Paediatr Neurol 2011 Jul 22;15(4):316-9. Epub 2011 Feb 22.

Institute of Child Health and Great Ormond Street Hospital, London, UK.

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July 2011

Stridor as a neonatal presentation of skeletal muscle sodium channelopathy.

Arch Neurol 2011 Jan;68(1):127-9

Institute of Neurology and Medical Research Council Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, University College London, London, England.

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January 2011

Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy 24 January 2005, London, UK.

Neuromuscul Disord 2006 Mar 23;16(3):210-9. Epub 2006 Feb 23.

The Dubowitz Neuromuscular Centre, Hammersmith Hospital, Imperial College, W12 ONN London, UK.

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March 2006

Peripheral neuropathy--a novel finding in dyskeratosis congenita.

Eur J Paediatr Neurol 2005 ;9(2):85-9

Dubowitz Neuromuscular Centre, Department of Paediatrics and Neonatal Medicine, Imperial College London, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK.

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July 2005

Muscular dystrophy campaign sponsored workshop: recommendation for respiratory care of children with spinal muscular atrophy type II and III. 13th February 2002, London, UK.

Neuromuscul Disord 2003 Feb;13(2):184-9

Department of Paediatrics, Imperial College, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, UK.

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February 2003