Publications by authors named "Caroline A Sewry"

69Publications

Nemaline myopathies: a current view.

J Muscle Res Cell Motil 2019 06 21;40(2):111-126. Epub 2019 Jun 21.

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

View Article and Find Full Text PDF
June 2019

Recessive MYH7-related myopathy in two families.

Neuromuscul Disord 2019 06 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.

View Article and Find Full Text PDF
June 2019

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

Neuromuscul Disord 2019 02 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.

View Article and Find Full Text PDF
February 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.

View Article and Find Full Text PDF
October 2018

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)

View Article and Find Full Text PDF
December 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.

View Article and Find Full Text PDF
November 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.

View Article and Find Full Text PDF
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:

View Article and Find Full Text PDF
January 2015

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.

View Article and Find Full Text PDF
November 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:

View Article and Find Full Text PDF
December 2014

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.

View Article and Find Full Text PDF
June 2015

Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.

PLoS One 2013 22;8(7):e68958. Epub 2013 Jul 22.

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

View Article and Find Full Text PDF
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:

View Article and Find Full Text PDF
November 2013

Core myopathies.

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

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

View Article and Find Full Text PDF
December 2011

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.

View Article and Find Full Text PDF
December 2011

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.

View Article and Find Full Text PDF
March 2012

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.

View Article and Find Full Text PDF
July 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.

View Article and Find Full Text PDF
September 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.

View Article and Find Full Text PDF
December 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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
December 2008

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.

View Article and Find Full Text PDF
October 2012

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.

View Article and Find Full Text PDF
October 2008

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.

Neuromuscul Disord 2007 Apr 21;17(4):338-45. Epub 2007 Mar 21.

Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK.

View Article and Find Full Text PDF
April 2007

Nemaline myopathy caused by absence of alpha-skeletal muscle actin.

Ann Neurol 2007 Feb;61(2):175-84

Centre for Medical Research, University of Western Australia, Nedlands, Australia, and Centre for Inherited Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, UK.

View Article and Find Full Text PDF
February 2007

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

Am J Hum Genet 2006 Nov 21;79(5):859-68. Epub 2006 Sep 21.

Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital London, United Kingdom.

View Article and Find Full Text PDF
November 2006

The apparent absence of lamin B1 and emerin in many tissue nuclei is due to epitope masking.

J Mol Histol 2005 Jun 10;36(5):337-44. Epub 2005 Nov 10.

Centre for Inherited Neuromuscular Disease, LMARC Building, Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, SY10 7AG, UK.

View Article and Find Full Text PDF
June 2005

Characterisation of the transcription factor, SIX5, using a new panel of monoclonal antibodies.

J Cell Biochem 2005 Aug;95(5):990-1001

Biochemistry Group, North East Wales Institute, Mold Road, Wrexham, United Kingdom.

View Article and Find Full Text PDF
August 2005

Muscle involvement in the cerebro-oculo-facio-skeletal syndrome.

Pediatr Neurol 2004 Feb;30(2):125-8

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

View Article and Find Full Text PDF
February 2004

What's new in neuromuscular disorders? The congenital myopathies.

Eur J Paediatr Neurol 2003 ;7(1):23-30

Dubowitz Neuromuscular Centre, Hammersmith Hospital, Imperial College Faculty of Medicine, London, UK.

View Article and Find Full Text PDF
May 2003

Diversity of neuromuscular pathology in lethal multiple pterygium syndrome.

Pediatr Dev Pathol 2003 Jan-Feb;6(1):59-68. Epub 2002 Nov 7.

Department of Histopathology, Birmingham Women's Hospital, Metchley Park Road, Birmingham B15 2TG, UK.

View Article and Find Full Text PDF
July 2003

The 3'-untranslated region of the dystrophin gene - conservation and consequences of loss.

Eur J Hum Genet 2002 Jul;10(7):413-20

Division of Medical & Molecular Genetics, GKT Medical School, Guy's Hospital, London, UK.

View Article and Find Full Text PDF
July 2002