Your browser doesn't support javascript.
loading
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Pagnamenta, Alistair T; Kaiyrzhanov, Rauan; Zou, Yaqun; Da'as, Sahar I; Maroofian, Reza; Donkervoort, Sandra; Dominik, Natalia; Lauffer, Marlen; Ferla, Matteo P; Orioli, Andrea; Giess, Adam; Tucci, Arianna; Beetz, Christian; Sedghi, Maryam; Ansari, Behnaz; Barresi, Rita; Basiri, Keivan; Cortese, Andrea; Elgar, Greg; Fernandez-Garcia, Miguel A; Yip, Janice; Foley, A Reghan; Gutowski, Nicholas; Jungbluth, Heinz; Lassche, Saskia; Lavin, Tim; Marcelis, Carlo; Marks, Peter; Marini-Bettolo, Chiara; Medne, Livija; Moslemi, Ali-Reza; Sarkozy, Anna; Reilly, Mary M; Muntoni, Francesco; Millan, Francisca; Muraresku, Colleen C; Need, Anna C; Nemeth, Andrea H; Neuhaus, Sarah B; Norwood, Fiona; O'Donnell, Marie; O'Driscoll, Mary; Rankin, Julia; Yum, Sabrina W; Zolkipli-Cunningham, Zarazuela; Brusius, Isabell; Wunderlich, Gilbert; Karakaya, Mert; Wirth, Brunhilde; Fakhro, Khalid A.
Affiliation
  • Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • Zou Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
  • Da'as SI; Department of Human Genetics, Sidra Medicine, Doha, Qatar.
  • Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
  • Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • Lauffer M; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
  • Ferla MP; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Orioli A; William Harvey Research Institute, Queen Mary University of London, London, UK.
  • Giess A; Genomics England, London, UK.
  • Tucci A; William Harvey Research Institute, Queen Mary University of London, London, UK.
  • Beetz C; Genomics England, London, UK.
  • Sedghi M; William Harvey Research Institute, Queen Mary University of London, London, UK.
  • Ansari B; Genomics England, London, UK.
  • Barresi R; Centogene AG, Rostock, Germany.
  • Basiri K; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Cortese A; Department of Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Elgar G; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
  • Fernandez-Garcia MA; Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK.
  • Yip J; Department of Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Foley AR; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • Gutowski N; William Harvey Research Institute, Queen Mary University of London, London, UK.
  • Jungbluth H; Genomics England, London, UK.
  • Lassche S; Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.
  • Lavin T; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • Marcelis C; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
  • Marks P; Department of Neurology, Royal Devon and Exeter NHS Trust, Exeter, UK.
  • Marini-Bettolo C; Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.
  • Medne L; Randall Division of Cell and Molecular Biophysics Muscle Signalling Section, King's College London, London, UK.
  • Moslemi AR; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Sarkozy A; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Reilly MM; Department of Neurology, Salford Royal NHS Foundation Trust, Manchester, UK.
  • Muntoni F; Department of Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Millan F; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Muraresku CC; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
  • Need AC; Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK.
  • Nemeth AH; Divisions of Neurology and Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Neuhaus SB; Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden.
  • Norwood F; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital Trust, London, UK.
  • O'Donnell M; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • O'Driscoll M; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital Trust, London, UK.
  • Rankin J; GeneDx, Gaithersburg, 20877 MD, USA.
  • Yum SW; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, PA, USA.
  • Zolkipli-Cunningham Z; William Harvey Research Institute, Queen Mary University of London, London, UK.
  • Brusius I; Genomics England, London, UK.
  • Wunderlich G; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Karakaya M; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
  • Wirth B; Department of Neurology, King's College Hospital, London, UK.
  • Fakhro KA; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
Brain ; 144(2): 584-600, 2021 03 03.
Article in En | MEDLINE | ID: mdl-33559681
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hereditary Sensory and Motor Neuropathy / Extracellular Matrix Proteins Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Aged / Animals / Child / Female / Humans / Male / Middle aged Language: En Journal: Brain Year: 2021 Type: Article Affiliation country: United kingdom
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hereditary Sensory and Motor Neuropathy / Extracellular Matrix Proteins Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Aged / Animals / Child / Female / Humans / Male / Middle aged Language: En Journal: Brain Year: 2021 Type: Article Affiliation country: United kingdom