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Retrospective natural history of thymidine kinase 2 deficiency.
Garone, Caterina; Taylor, Robert W; Nascimento, Andrés; Poulton, Joanna; Fratter, Carl; Domínguez-González, Cristina; Evans, Julie C; Loos, Mariana; Isohanni, Pirjo; Suomalainen, Anu; Ram, Dipak; Hughes, M Imelda; McFarland, Robert; Barca, Emanuele; Lopez Gomez, Carlos; Jayawant, Sandeep; Thomas, Neil D; Manzur, Adnan Y; Kleinsteuber, Karin; Martin, Miguel A; Kerr, Timothy; Gorman, Grainne S; Sommerville, Ewen W; Chinnery, Patrick F; Hofer, Monika; Karch, Christoph; Ralph, Jeffrey; Cámara, Yolanda; Madruga-Garrido, Marcos; Domínguez-Carral, Jana; Ortez, Carlos; Emperador, Sonia; Montoya, Julio; Chakrapani, Anupam; Kriger, Joshua F; Schoenaker, Robert; Levin, Bruce; Thompson, John L P; Long, Yuelin; Rahman, Shamima; Donati, Maria Alice; DiMauro, Salvatore; Hirano, Michio.
Afiliação
  • Garone C; Department of Neurology, Columbia University Medical Center, New York City, New York, USA.
  • Taylor RW; MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK.
  • Nascimento A; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
  • Poulton J; Neuromuscular Unit, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Fratter C; Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, UK.
  • Domínguez-González C; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Evans JC; Neuromuscular Unit, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Loos M; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Isohanni P; Instituto de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Suomalainen A; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Ram D; Neurology Department, Hospital de Pediatría 'Prof. Dr JP Garrahan', Buenos Aires, Argentina.
  • Hughes MI; Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
  • McFarland R; Department of Child Neurology, Children's Hospital, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.
  • Barca E; Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
  • Lopez Gomez C; Neuroscience Center, University of Helsinki, Helsinki, Finland.
  • Jayawant S; Department of Neurology, Helsinki University Hospital, Helsinki, Finland.
  • Thomas ND; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, UK.
  • Manzur AY; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, UK.
  • Kleinsteuber K; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
  • Martin MA; Department of Neurology, Columbia University Medical Center, New York City, New York, USA.
  • Kerr T; UOC Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
  • Gorman GS; Department of Neurology, Columbia University Medical Center, New York City, New York, USA.
  • Sommerville EW; Paediatric Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Chinnery PF; Paediatric Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Hofer M; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Karch C; Pediatric Neurology, Faculty of Medicine, Universidad de Chile, Clínica Las Condes, Santiago, Chile.
  • Ralph J; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Cámara Y; Instituto de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Madruga-Garrido M; Paediatric Neurology, St George's University Hospitals NHS Foundation Trust, London, UK.
  • Domínguez-Carral J; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
  • Ortez C; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
  • Emperador S; MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK.
  • Montoya J; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Chakrapani A; Department of Neuropathology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Kriger JF; Department of Neurology, University of California San Francisco, San Francisco, California, USA.
  • Schoenaker R; Department of Neurology, University of California San Francisco, San Francisco, California, USA.
  • Levin B; Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca, Barcelona, Spain.
  • Thompson JLP; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.
  • Long Y; Sección de Neuropediatría, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, Seville, Spain.
  • Rahman S; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER, ISCIII, Universitat de Barcelona, Barcelona, Spain.
  • Donati MA; Neuromuscular Unit, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • DiMauro S; Department of Biochemistry and Molecular Biology, University of Zaragoza-CIBERER-Instituto de investigaciones Sanitarias de Aragón, Zaragoza, Spain.
  • Hirano M; Department of Biochemistry and Molecular Biology, University of Zaragoza-CIBERER-Instituto de investigaciones Sanitarias de Aragón, Zaragoza, Spain.
J Med Genet ; 55(8): 515-521, 2018 08.
Article em En | MEDLINE | ID: mdl-29602790
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Timidina Quinase / Predisposição Genética para Doença / Proteínas Mitocondriais / Estudos de Associação Genética / Doenças Musculares Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: J Med Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Timidina Quinase / Predisposição Genética para Doença / Proteínas Mitocondriais / Estudos de Associação Genética / Doenças Musculares Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: J Med Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos