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Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Horga, Alejandro; Woodward, Catherine E; Mills, Alberto; Pareés, Isabel; Hargreaves, Iain P; Brown, Ruth M; Bugiardini, Enrico; Brooks, Tony; Manole, Andreea; Remzova, Elena; Rahman, Shamima; Reilly, Mary M; Houlden, Henry; Sweeney, Mary G; Brown, Garry K; Polke, James M; Gago, Federico; Parton, Matthew J; Pitceathly, Robert D S; Hanna, Michael G.
Afiliação
  • Horga A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Woodward CE; Neuromuscular Diseases Unit, Department of Neurology, Hospital Clínico San Carlos, IdISSC, Madrid, Spain.
  • Mills A; Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, UK.
  • Pareés I; Area of Pharmacology, Department of Biomedical Sciences, School of Medicine and Health Sciences, University of Alcalá, Alcalá de Henares, Spain.
  • Hargreaves IP; Sobell Department of Motor Neuroscience and Movement Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • Brown RM; Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London, UK.
  • Bugiardini E; Oxford Medical Genetics Laboratories, The Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Brooks T; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Manole A; UCL Genomics, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
  • Remzova E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Rahman S; Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London, UK.
  • Reilly MM; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health, London, UK.
  • Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Sweeney MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Brown GK; Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, UK.
  • Polke JM; Oxford Medical Genetics Laboratories, The Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Gago F; Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, UK.
  • Parton MJ; Area of Pharmacology, Department of Biomedical Sciences, School of Medicine and Health Sciences, University of Alcalá, Alcalá de Henares, Spain.
  • Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK. r.pitceathly@ucl.ac.uk.
Hum Genet ; 138(11-12): 1313-1322, 2019 Dec.
Article em En | MEDLINE | ID: mdl-31673819
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença da Deficiência do Complexo de Piruvato Desidrogenase / Piruvato Desidrogenase (Lipoamida) / Inativação do Cromossomo X / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença da Deficiência do Complexo de Piruvato Desidrogenase / Piruvato Desidrogenase (Lipoamida) / Inativação do Cromossomo X / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article