Publications by authors named "Adnan Manzur"

61Publications

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

Ann Clin Transl Neurol 2020 Nov 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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http://dx.doi.org/10.1002/acn3.51218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7664282PMC
November 2020

POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan.

Elife 2020 09 25;9. Epub 2020 Sep 25.

Howard Hughes Medical Institute, Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Department of Molecular Physiology and Biophysics and Department of Neurology, Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, United States.

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http://dx.doi.org/10.7554/eLife.61388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7556876PMC
September 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 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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http://dx.doi.org/10.1016/j.chest.2020.04.043DOI Listing
October 2020

Longitudinal natural history in young boys with Duchenne muscular dystrophy.

Neuromuscul Disord 2019 11 26;29(11):857-862. Epub 2019 Sep 26.

Paediatric Neurology, Catholic University, Rome, Italy; Centro Clinico Nemo, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.09.010DOI Listing
November 2019

Clinical features of facioscapulohumeral muscular dystrophy 1 in childhood.

Dev Med Child Neurol 2019 08 20;61(8):964-971. Epub 2019 Jan 20.

Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1111/dmcn.14142DOI Listing
August 2019

Electromyography and muscle biopsy in paediatric neuromuscular disorders - Evaluation of current practice and literature review.

Neuromuscul Disord 2019 01 31;29(1):14-20. Epub 2018 Oct 31.

Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2018.10.003DOI Listing
January 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

Case of paediatric neuromuscular disease with a surprising clinical outcome: time to challenge the dogma?

Thorax 2018 08 30;73(8):788-790. Epub 2018 Jan 30.

Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK.

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http://dx.doi.org/10.1136/thoraxjnl-2017-211058DOI Listing
August 2018

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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http://dx.doi.org/10.1016/j.jpeds.2017.05.081DOI Listing
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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http://dx.doi.org/10.1093/hmg/ddw388DOI Listing
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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http://dx.doi.org/10.1212/WNL.0000000000003212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067545PMC
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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http://dx.doi.org/10.1016/j.nmd.2016.05.006DOI Listing
August 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

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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http://dx.doi.org/10.1002/14651858.CD003725.pub4DOI Listing
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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http://dx.doi.org/10.1136/jnnp-2014-309405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752678PMC
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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http://www.neurology.org/content/84/7/668.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000126
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http://dx.doi.org/10.1212/WNL.0000000000001269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336105PMC
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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http://dx.doi.org/10.1212/WNL.0000000000001110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336094PMC
January 2015

Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy.

Dev Med Child Neurol 2013 Nov 5;55(11):1046-52. Epub 2013 Aug 5.

Institute of Genetic Medicine, Newcastle University, Newcastle, UK.

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http://dx.doi.org/10.1111/dmcn.12220DOI Listing
November 2013

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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http://dx.doi.org/10.1016/j.nmd.2013.06.002DOI Listing
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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http://dx.doi.org/10.1186/1546-0096-11-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652784PMC
May 2013

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

Hum Mutat 2013 Jul 17;34(7):986-96. Epub 2013 Apr 17.

Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1002/humu.22326DOI Listing
July 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

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.

Neuromuscul Disord 2013 Feb 5;23(2):170-5. Epub 2012 Dec 5.

Wessex Neurological Centre, Southampton General Hospital, Southampton, UK.

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http://dx.doi.org/10.1016/j.nmd.2012.11.004DOI Listing
February 2013

Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy.

Physiother Res Int 2012 Jun 23;17(2):101-9. Epub 2011 Sep 23.

Muscular Dystrophy Campaign, London, UK.

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http://dx.doi.org/10.1002/pri.520DOI Listing
June 2012

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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http://dx.doi.org/10.1016/j.ejpn.2011.01.007DOI Listing
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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http://dx.doi.org/10.1001/archneurol.2010.347DOI Listing
January 2011

Is there post-natal muscle growth in amyoplasia? A sequential MRI study.

Neuromuscul Disord 2009 Jun 27;19(6):444-5. Epub 2009 May 27.

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

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http://linkinghub.elsevier.com/retrieve/pii/S096089660900082
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http://dx.doi.org/10.1016/j.nmd.2009.03.006DOI Listing
June 2009

Perinatal dyskinesia as a presenting feature in Prader Willi syndrome.

Eur J Paediatr Neurol 2009 Jul 21;13(4):350-5. Epub 2008 Aug 21.

The Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial NHS Trust, Imperial College, London UK.

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http://dx.doi.org/10.1016/j.ejpn.2008.07.001DOI Listing
July 2009

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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http://dx.doi.org/10.1016/j.nmd.2006.01.004DOI Listing
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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http://dx.doi.org/10.1016/j.ejpn.2005.01.007DOI Listing
July 2005

Can clinical signs identify newborns with neuromuscular disorders?

J Pediatr 2005 Jan;146(1):73-9

Department of Paediatrics, Imperial College, Hammersmith Hospital, London, UK.

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http://dx.doi.org/10.1016/j.jpeds.2004.08.047DOI Listing
January 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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http://dx.doi.org/10.1016/s0960-8966(02)00212-2DOI Listing
February 2003