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Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Manole, Andreea; Jaunmuktane, Zane; Hargreaves, Iain; Ludtmann, Marthe H R; Salpietro, Vincenzo; Bello, Oscar D; Pope, Simon; Pandraud, Amelie; Horga, Alejandro; Scalco, Renata S; Li, Abi; Ashokkumar, Balasubramaniem; Lourenço, Charles M; Heales, Simon; Horvath, Rita; Chinnery, Patrick F; Toro, Camilo; Singleton, Andrew B; Jacques, Thomas S; Abramov, Andrey Y; Muntoni, Francesco; Hanna, Michael G; Reilly, Mary M; Revesz, Tamas; Kullmann, Dimitri M; Jepson, James E C; Houlden, Henry.
Afiliação
  • Manole A; Department of Molecular Neuroscience and Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Jaunmuktane Z; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Hargreaves I; Division of Neuropathology and Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Ludtmann MHR; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.
  • Salpietro V; Department of Molecular Neuroscience and Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Bello OD; Department of Molecular Neuroscience and Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Pope S; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Pandraud A; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Horga A; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.
  • Scalco RS; Department of Molecular Neuroscience and Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Li A; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Ashokkumar B; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Lourenço CM; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Heales S; Reta Lila Weston Institute of Neurological Studies and Queen Square Brain Bank for Neurological Disorders, Queen Square, London WC1N 3BG, UK.
  • Horvath R; Department of Molecular Neuroscience and Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Chinnery PF; School of Biotechnology, Madurai Kamaraj University, Madurai 625021, India.
  • Toro C; Departamento de Neurociências e Ciências do Comportamento, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo (USP), Ribeirão Preto, SP, Brazil.
  • Singleton AB; Chemical Pathology, Great Ormond Street Children's Hospital, London, UK.
  • Jacques TS; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.
  • Abramov AY; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Muntoni F; MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
  • Hanna MG; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, MD, USA.
  • Reilly MM; Laboratory of Neurogenetics, NIA/NIH, Bethesda, MD, USA.
  • Revesz T; Developmental Biology and Cancer Programme, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
  • Kullmann DM; Department of Molecular Neuroscience and Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Jepson JEC; The Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London, WC1N 1EH, UK.
  • Houlden H; Department of Molecular Neuroscience and Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Brain ; 140(11): 2820-2837, 2017 11 01.
Article em En | MEDLINE | ID: mdl-29053833
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paralisia Bulbar Progressiva / Proteínas de Membrana Transportadoras / Medula Espinal / Encéfalo / Receptores Acoplados a Proteínas G / Perda Auditiva Neurossensorial Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paralisia Bulbar Progressiva / Proteínas de Membrana Transportadoras / Medula Espinal / Encéfalo / Receptores Acoplados a Proteínas G / Perda Auditiva Neurossensorial Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Ano de publicação: 2017 Tipo de documento: Article