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Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
Rossor, Alexander M; Oates, Emily C; Salter, Hannah K; Liu, Yang; Murphy, Sinead M; Schule, Rebecca; Gonzales, Michael A; Scoto, Mariacristina; Phadke, Rahul; Sewry, Caroline A; Houlden, Henry; Jordanova, Albena; Tournev, Iyailo; Chamova, Teodora; Litvinenko, Ivan; Zuchner, Stephan; Herrmann, David N; Blake, Julian; Sowden, Janet E; Acsadi, Gyuda; Rodriguez, Michael L; Menezes, Manoj P; Clarke, Nigel F; Auer Grumbach, Michaela; Bullock, Simon L; Muntoni, Francesco; Reilly, Mary M; North, Kathryn N.
Afiliação
  • Rossor AM; 1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK a.rossor@ucl.ac.uk.
  • Oates EC; 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.
  • Salter HK; 4 Cell Biology Division, MRC Laboratory of Molecular Biology, Cambridge, CB2 0QH, UK.
  • Liu Y; 4 Cell Biology Division, MRC Laboratory of Molecular Biology, Cambridge, CB2 0QH, UK.
  • Murphy SM; 5 Department of Neurology, Adelaide and Meath Hospitals Incorporating the National Children's Hospital, Tallaght, Dublin, Ireland 6 Academic Unit of Neurology, Trinity College Dublin, Ireland.
  • Schule R; 7 Hertie Institute for Clinical Brain Research and Centre for Neurology, Department of Neurodegenerative Disease, University of Tübingen, 72074 Germany.
  • Gonzales MA; 8 Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA.
  • Scoto M; 9 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK.
  • Phadke R; 1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK.
  • Sewry CA; 9 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK.
  • Houlden H; 1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK.
  • Jordanova A; 10 Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, Antwerp 2610, Belgium 11 Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium 12 Department of Medical Chemistry and Biochemistry, Molecular Medicine Centre, Medical University-Sofia, Sof
  • Tournev I; 13 Department of Neurology, Medical University-Sofia, Sofia 1000, Bulgaria 14 Department of Cognitive Science and Psychology, New Bulgarian University, Sofia.
  • Chamova T; 13 Department of Neurology, Medical University-Sofia, Sofia 1000, Bulgaria.
  • Litvinenko I; 15 Clinic of Child Neurology, Department of Paediatrics, Medical University-Sofia, Sofia 1000, Bulgaria.
  • Zuchner S; 8 Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA.
  • Herrmann DN; 16 University of Rochester Medical Centre, Departments of Neurology and Pathology, Rochester, NY, 14642, USA.
  • Blake J; 17 Department of Clinical Neurophysiology, The National Hospital for Neurology and Neurosurgery and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK 18 Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, UK.
  • Sowden JE; 19 University of Rochester Medical Centre, Department of Neurology, Rochester, NY, 14642, USA.
  • Acsadi G; 20 Connecticut Children's Medical Centre, Department of Neurology, Hartford Connecticut, 06106, USA.
  • Rodriguez ML; 21 Department of Forensic Medicine, Sydney Local Health District, New South Wales, 2037, Australia 22 Discipline of Pathology, Sydney Medical School, The University of Sydney, Sydney, New South Wales, 2006, Australia.
  • Menezes MP; 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.
  • Clarke NF; 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.
  • Auer Grumbach M; 23 Division of Orthopaedics, Medical University of Vienna, Währinger Gürtel 18-20, A-1090 Vienna, Austria.
  • Bullock SL; 4 Cell Biology Division, MRC Laboratory of Molecular Biology, Cambridge, CB2 0QH, UK.
  • Muntoni F; 1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK 9 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK.
  • Reilly MM; 1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK.
  • North KN; 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 Roya
Brain ; 138(Pt 11): e392, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26063657
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Proteínas Associadas aos Microtúbulos Limite: Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Proteínas Associadas aos Microtúbulos Limite: Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article