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Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.
Bugiardini, Enrico; Khan, Alaa M; Phadke, Rahul; Lynch, David S; Cortese, Andrea; Feng, Lucy; Gang, Qiang; Pittman, Alan M; Morrow, Jasper M; Turner, Chris; Carr, Aisling S; Quinlivan, Ros; Rossor, Alexander M; Holton, Janice L; Parton, Matt; Blake, Julian C; Reilly, Mary M; Houlden, Henry; Matthews, Emma; Hanna, Michael G.
Affiliation
  • Bugiardini E; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom.
  • Khan AM; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom; Molecular Diagnostic Unit, Clinical Laboratory Department, King Abdullah Medical City in Makkah, Makkah, Saudi Arabia.
  • Phadke R; Division of Neuropathology, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital for Children, United Kingdom; Division of Neuropathology, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
  • Lynch DS; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom.
  • Cortese A; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom; Department of Brain and Behavioral Sci
  • Feng L; Division of Neuropathology, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital for Children, United Kingdom.
  • Gang Q; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom.
  • Pittman AM; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom; St George's, University of London, Cranmer Terrace, London, United Kingdom.
  • Morrow JM; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
  • Turner C; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
  • Carr AS; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
  • Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
  • Rossor AM; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom.
  • Holton JL; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Division of Neuropathology, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
  • Parton M; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
  • Blake JC; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Clinical Neurophysiology Norfolk and Norwich University Hospital, Norwich, United Kingdom.
  • Reilly MM; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom.
  • Houlden H; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom.
  • Matthews E; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom.
  • Hanna MG; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom. Electronic address: m.hanna@ucl.ac.uk.
Neuromuscul Disord ; 29(10): 747-757, 2019 10.
Article in En | MEDLINE | ID: mdl-31561939
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Myopathies, Structural, Congenital / Muscle Proteins / Mutation Type of study: Prognostic_studies Limits: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2019 Document type: Article Affiliation country: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Myopathies, Structural, Congenital / Muscle Proteins / Mutation Type of study: Prognostic_studies Limits: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2019 Document type: Article Affiliation country: United kingdom