Your browser doesn't support javascript.
loading
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
Sarkozy, Anna; Torelli, Silvia; Mein, Rachael; Henderson, Matt; Phadke, Rahul; Feng, Lucy; Sewry, Caroline; Ala, Pierpaolo; Yau, Michael; Bertoli, Marta; Willis, Tracey; Hammans, Simon; Manzur, Adnan; Sframeli, Maria; Norwood, Fiona; Rakowicz, Wojtek; Radunovic, Aleksandar; Vaidya, Sujit S; Parton, Matt; Walker, Mark; Marino, Silvia; Offiah, Curtis; Farrugia, Maria Elena; Mamutse, Godwin; Marini-Bettolo, Chiara; Wraige, Elizabeth; Beeson, David; Lochmüller, Hanns; Straub, Volker; Bushby, Kate; Barresi, Rita; Muntoni, Francesco.
Afiliação
  • Sarkozy A; Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Torelli S; Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Mein R; DNA Laboratory, Viapath, Guy's Hospital, London, UK.
  • Henderson M; Rare Diseases Advisory Group Service for Neuromuscular Diseases, Muscle Immunoanalysis Unit, Dental Hospital, Newcastle upon Tyne, UK.
  • Phadke R; Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Feng L; Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Sewry C; Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Ala P; The Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, UK.
  • Yau M; Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Bertoli M; DNA Laboratory, Viapath, Guy's Hospital, London, UK.
  • Willis T; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.
  • Hammans S; Northern Genetics Service, Newcastle upon Tyne NHS Trust, Newcastle upon Tyne, UK.
  • Manzur A; The Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, UK.
  • Sframeli M; Wessex Neurological Centre, University Hospital of Southampton, Southampton, UK.
  • Norwood F; Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Rakowicz W; Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Radunovic A; Department of Neurology, King's College Hospital, London, UK.
  • Vaidya SS; Department of Neurology, Hampshire Hospitals NHS Foundation Trust, Royal Hampshire County Hospital, Winchester, UK.
  • Parton M; The Royal London Hospital, London, UK.
  • Walker M; The Royal London Hospital, London, UK.
  • Marino S; MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK.
  • Offiah C; Department of Cellular Pathology, Southampton University Hospitals, Southampton, UK.
  • Farrugia ME; Queen Mary University of London, Barts and the London School of Medicine and Dentistry, London, UK.
  • Mamutse G; Department of Radiology, Royal London Hospital, London, UK.
  • Marini-Bettolo C; Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK.
  • Wraige E; Department of Neurology, Norfolk and Norwich University Hospital, Norwich, UK.
  • Beeson D; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.
  • Lochmüller H; Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, St Thomas' Hospital, London, UK.
  • Straub V; Neuromuscular Disorders Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, Oxford, UK.
  • Bushby K; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.
  • Barresi R; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.
  • Muntoni F; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.
J Neurol Neurosurg Psychiatry ; 89(7): 762-768, 2018 07.
Article em En | MEDLINE | ID: mdl-29437916
Assuntos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distroglicanas / Guanosina Difosfato Manose / Distrofias Musculares / Mutação / Nucleotidiltransferases Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distroglicanas / Guanosina Difosfato Manose / Distrofias Musculares / Mutação / Nucleotidiltransferases Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido