Caroline Sewry

Caroline Sewry

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Caroline Sewry

Caroline Sewry

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Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle.

Sci Rep 2019 Oct 2;9(1):14202. Epub 2019 Oct 2.

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

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http://dx.doi.org/10.1038/s41598-019-50728-6DOI Listing
October 2019

Two Cases of Spinal Muscular Atrophy Type II with Eosinophilic Oesophagitis.

J Neuromuscul Dis 2017;4(4):357-362

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

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http://dx.doi.org/10.3233/JND-170260DOI Listing
July 2019

Recessive MYH7-related myopathy in two families.

Neuromuscul Disord 2019 Jun 12;29(6):456-467. Epub 2019 Apr 12.

Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's&St Thomas' Hospital NHS Foundation Trust, London, UK; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College, London, UK; Department of Clinical and Basic Neuroscience, Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2019.04.002DOI Listing
June 2019

Nemaline myopathies: a current view.

J Muscle Res Cell Motil 2019 Jun 21;40(2):111-126. Epub 2019 Jun 21.

Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.

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http://dx.doi.org/10.1007/s10974-019-09519-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6726674PMC
June 2019

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Neuromuscul Disord 2019 Feb 20;29(2):97-107. Epub 2018 Dec 20.

The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183056
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http://dx.doi.org/10.1016/j.nmd.2018.12.007DOI Listing
February 2019

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

Neuromuscul Disord 2019 Jan 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

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation.

Sci Rep 2018 10 24;8(1):15728. Epub 2018 Oct 24.

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

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http://dx.doi.org/10.1038/s41598-018-33281-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6200726PMC
October 2018

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

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Nat Rev Neurol 2018 03 2;14(3):151-167. Epub 2018 Feb 2.

The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1038/nrneurol.2017.191DOI Listing
March 2018

Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations.

Neuromuscul Disord 2017 Feb 3;27(2):170-174. Epub 2016 Nov 3.

Newcastle University John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.10.009DOI Listing
February 2017

Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.

Am J Pathol 2017 Feb 8;187(2):441-456. Epub 2016 Dec 8.

Comparative Neuromuscular Diseases Laboratory, Department of Clinical Sciences and Services, Royal Veterinary College, London, United Kingdom.

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http://dx.doi.org/10.1016/j.ajpath.2016.10.002DOI Listing
February 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

A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.

J Neurol 2016 Jul 13;263(7):1427-33. Epub 2016 May 13.

Department of Pathology and Genetics, Institute of Biomedicine, The Sahlgrenska Academy, University of Gothenburg, 413 45, Gothenburg, Sweden.

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http://dx.doi.org/10.1007/s00415-016-8154-8DOI Listing
July 2016

Common Data Elements for Muscle Biopsy Reporting.

Arch Pathol Lab Med 2016 Jan 1;140(1):51-65. Epub 2015 Jul 1.

From the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, Bethesda, Maryland (Drs Dastgir and Bonnemann); the Department of Pediatric Neurology, Division of Pediatric Neuromuscular Medicine, Columbia University Medical Center, New York, New York (Dr Dastgir); Cure CMD, Olathe, Kansas (Dr Rutkowski and Mss Alvarez and Cossette); the Department of Pediatrics, Quantitative Health Sciences Section (Drs Yan and Hoffmann), and the Department of Pathology and Laboratory Medicine, Division of Pediatric Pathology (Dr Lawlor and Ms Cossette); Medical College of Wisconsin, Milwaukee; the Dubowitz Neuromuscular Centre (Dr Sewry), the Institute of Child Health (Dr Sewry), and Great Ormond Street Hospital (Dr Sewry), University College of London, London, United Kingdom; the Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, United Kingdom (Dr Sewry); the Department of Neurophysiology, Tokyo Medical University, Tokyo, Japan (Dr Hayashi); and the Department of Neuropathology, University Medical Center, Johannes Gutenberg University, Mainz, Germany (Dr Goebel).

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http://dx.doi.org/10.5858/arpa.2014-0453-OADOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975562PMC
January 2016

Choline Kinase Beta-Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging.

Pediatr Neurol 2016 Jan 6;54:49-54. Epub 2015 Nov 6.

Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.09.018DOI Listing
January 2016

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Brain 2015 Nov 10;138(Pt 11):e392. Epub 2015 Jun 10.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital. Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awv160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4719680PMC
November 2015

Nesprins: tissue-specific expression of epsilon and other short isoforms.

PLoS One 2014 9;9(4):e94380. Epub 2014 Apr 9.

Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital, Oswestry, United Kingdom; Institute for Science and Technology in Medicine, Keele University, Staffordshire, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0094380PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981789PMC
June 2015

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Brain 2015 Feb 14;138(Pt 2):293-310. Epub 2014 Dec 14.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital, Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awu356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306822PMC
February 2015

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

A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients.

Neuromuscul Disord 2015 Jan 16;25(1):32-42. Epub 2014 Sep 16.

Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital, Oswestry, UK; Institute for Science and Technology in Medicine, Keele University, Keele, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.09.005DOI Listing
January 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

Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.

Neuromuscul Disord 2014 Dec 30;24(12):1103-10. Epub 2014 Jul 30.

Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966140061
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http://dx.doi.org/10.1016/j.nmd.2014.07.005DOI Listing
December 2014

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.

Neuromuscul Disord 2014 Dec 7;24(12):1122. Epub 2014 Aug 7.

Charité - Universitätsmedizin Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966140061
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http://dx.doi.org/10.1016/j.nmd.2014.07.007DOI Listing
December 2014

Dystrophin quantification: Biological and translational research implications.

Neurology 2014 Nov 29;83(22):2062-9. Epub 2014 Oct 29.

From The Dubowitz Neuromuscular Centre (K.A., V.A.-G., S.T., L.F., N.J., C.A.S., J.E.M., F.M.), UCL, Institute of Child Health, London, UK; The Center for Gene Therapy (L.E.T., A.V., Y.K., K.M.F.), The Research Institute at Nationwide Children's Hospital, Columbus, OH; Institut de Myologie (G.B., M.B., T.V.), UPMC UM76, INSERM U 794, CNRS UMR 7215, Paris, France; Institute of Genetic Medicine (R.B., M.H., S.L., V.S.), Newcastle University, UK; and Prosensa Therapeutics (A.L., G.C.), Leiden, the Netherlands. V.A.-G. is currently affiliated with the Neuromuscular Disorders Group, BioCruces Health Research Institute, Barakaldo, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000001025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248450PMC
November 2014

Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.

Neuromuscul Disord 2014 Aug 2;24(8):677-83. Epub 2014 Jun 2.

Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London WC1N 1EH, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.05.008DOI Listing
August 2014

A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis.

BMJ Open 2014 Apr 28;4(4):e004552. Epub 2014 Apr 28.

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

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http://dx.doi.org/10.1136/bmjopen-2013-004552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4010816PMC
April 2014

Approach to the diagnosis of congenital myopathies.

Neuromuscul Disord 2014 Feb 18;24(2):97-116. Epub 2013 Nov 18.

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States.

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http://www.joshuafrase.org/uploads/2011-Diagnosis-Congenital
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http://linkinghub.elsevier.com/retrieve/pii/S096089661300994
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http://dx.doi.org/10.1016/j.nmd.2013.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5257342PMC
February 2014

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

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

Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain.

Eur Neurol 2012 5;68(5):279-86. Epub 2012 Oct 5.

Department of Neurology, Nottingham University Hospitals, Queens Medical Centre, Nottingham, UK.

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http://dx.doi.org/10.1159/000341617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551980PMC
June 2013

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.

Neuromuscul Disord 2013 May 18;23(5):391-8. Epub 2013 Mar 18.

Department of Paediatric Neurology-Neuromuscular Service, Evelina Children's Hospital, Guy's & St. Thomas' NHS Foundation Trust, UK.

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http://dx.doi.org/10.1016/j.nmd.2013.02.001DOI Listing
May 2013

Congenital myopathies.

Handb Clin Neurol 2007 ;86:1-33

Centre for Medical Research, University of Western Australia, West Australian Institute for Medical Research, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1016/S0072-9752(07)86001-5DOI 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

Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy.

Am J Med Genet A 2012 Feb 30;158A(2):440-4. Epub 2011 Sep 30.

Department of Anatomy & Cell Biology, University of Malta, Msida, Malta.

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http://dx.doi.org/10.1002/ajmg.a.34273DOI Listing
February 2012

Nemaline myopathies.

Semin Pediatr Neurol 2011 Dec;18(4):230-8

The Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.spen.2011.10.004DOI Listing
December 2011

Core myopathies.

Semin Pediatr Neurol 2011 Dec;18(4):239-49

Clinical Neuroscience Division, Institute of Psychiatry, King's College London, London, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S107190911100090
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http://dx.doi.org/10.1016/j.spen.2011.10.005DOI Listing
December 2011

Monitoring duchenne muscular dystrophy gene therapy with epitope-specific monoclonal antibodies.

Methods Mol Biol 2011 ;709:39-61

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

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http://dx.doi.org/10.1007/978-1-61737-982-6_3DOI Listing
July 2011

King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Neuromuscul Disord 2011 Jun 22;21(6):420-7. Epub 2011 Apr 22.

Division of Pediatric Neurology, Pediatric Neuromuscular Clinic, 5328 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1016/j.nmd.2011.03.006DOI Listing
June 2011

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.

Neuromuscul Disord 2011 Jan 3;21(1):37-40. Epub 2010 Dec 3.

Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2010.11.003DOI Listing
January 2011

Muscular dystrophies: an update on pathology and diagnosis.

Authors:
Caroline A Sewry

Acta Neuropathol 2010 Sep 23;120(3):343-58. Epub 2010 Jul 23.

Dubowitz Neuromuscular Centre, Institute of Child Health, Great Ormond Street Hospital, London WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s00401-010-0727-5DOI Listing
September 2010

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials.

Neuromuscul Disord 2010 May 14;20(5):295-301. Epub 2010 Apr 14.

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

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http://dx.doi.org/10.1016/j.nmd.2010.03.007DOI Listing
May 2010

Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle.

Muscle Nerve 2010 Feb;41(2):166-73

Institute of Human Genetics, International Centre for Life, University of Newcastle, Newcastle-upon-Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1002/mus.21166DOI Listing
February 2010

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.

Neuromuscul Disord 2010 Jan 22;20(1):49-52. Epub 2009 Nov 22.

Clinical Neuroscience Division, King's College, London, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660900658
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http://dx.doi.org/10.1016/j.nmd.2009.10.005DOI Listing
January 2010

Pathological defects in congenital myopathies.

Authors:
Caroline A Sewry

J Muscle Res Cell Motil 2008 30;29(6-8):231-8. Epub 2008 Dec 30.

Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s10974-008-9155-8DOI Listing
December 2009

Mutation in BAG3 causes severe dominant childhood muscular dystrophy.

Ann Neurol 2009 Jan;65(1):83-9

Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, NY, USA.

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http://dx.doi.org/10.1002/ana.21553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2639628PMC
January 2009

Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle.

Am J Pathol 2009 Jan 18;174(1):216-27. Epub 2008 Dec 18.

Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital, Oswestry, Shropshire, United Kingdom.

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http://linkinghub.elsevier.com/retrieve/pii/S000294401061280
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http://dx.doi.org/10.2353/ajpath.2009.080520DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2631334PMC
January 2009

Investigating the pathology of Emery-Dreifuss muscular dystrophy.

Biochem Soc Trans 2008 Dec;36(Pt 6):1335-8

Department of Cellular and Molecular Neuroscience, Faculty of Medicine, Imperial College London, Hammersmith Hospital, London, UK.

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http://dx.doi.org/10.1042/BST0361335DOI Listing
December 2008

Congenital myopathies.

Curr Opin Neurol 2008 Oct;21(5):569-75

Dubowitz Neuromuscular Centre, Nationally Commissioned Centre for Congenital Muscular Dystrophies and Congenital Myopathies Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.

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https://insights.ovid.com/crossref?an=00019052-200810000-000
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http://dx.doi.org/10.1097/WCO.0b013e32830f93c7DOI Listing
October 2008