Your browser doesn't support javascript.
loading
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Mingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B T; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos; García-Cazorla, Angels; Gross, Claudia; O'Callaghan, Maria; Santra, Saikat; Preece, Maryanne A; Champion, Michael; Korenev, Sergei; Chronopoulou, Efsthatia; Anirban, Majumdar; Pierre, Germaine; McArthur, Daniel; Thompson, Kyle; Navas, Placido; Ribes, Antonia; Tort, Frederic; Schlüter, Agatha; Pujol, Aurora; Montero, Raquel; Sarquella, Georgia; Lochmüller, Hanns; Jiménez-Mallebrera, Cecilia; Taylor, Robert W; Artuch, Rafael; Kirschner, Janbernd; Grünert, Sarah C; Roos, Andreas; Horvath, Rita.
Afiliação
  • Mingirulli N; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Breisgau, Germany.
  • Pyle A; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Breisgau, Germany.
  • Hathazi D; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Alston CL; Biomedical Research Department, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany.
  • Kohlschmidt N; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • O'Grady G; Institute of Clinical Genetics and Tumor Genetics, Bonn, Germany.
  • Waddell L; Kid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Evesson F; Kid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Cooper SBT; Kid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Turner C; Discipline of Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Duff J; Kid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Topf A; Discipline of Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Yubero D; Discipline of Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Jou C; Cardiology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Nascimento A; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Ortez C; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • García-Cazorla A; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
  • Gross C; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
  • O'Callaghan M; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
  • Santra S; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
  • Preece MA; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
  • Champion M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Korenev S; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
  • Chronopoulou E; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Anirban M; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Pierre G; Department of Inherited Disease, St Thomas Hospital, London, UK.
  • McArthur D; Department of Inherited Disease, St Thomas Hospital, London, UK.
  • Thompson K; South West Regional Metabolic Department, Bristol Royal Hospital for Children, Bristol, UK.
  • Navas P; South West Regional Metabolic Department, Bristol Royal Hospital for Children, Bristol, UK.
  • Ribes A; South West Regional Metabolic Department, Bristol Royal Hospital for Children, Bristol, UK.
  • Tort F; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Schlüter A; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.
  • Pujol A; Kid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Montero R; Centro Andaluz de Biología del Desarrollo, Uníversidad Pablo de Olavide-CSIC-JA and CIBERER, Instituto de Salud Carlos III, Madrid, Spain.
  • Sarquella G; Secció d'Errors Congènits del Metabolisme - IBC, Servei de Bioquímica I Genètìca Molecular, Hospital Clínìc, IDIBAPS, CIBERER, Barcelona, Spain.
  • Lochmüller H; Secció d'Errors Congènits del Metabolisme - IBC, Servei de Bioquímica I Genètìca Molecular, Hospital Clínìc, IDIBAPS, CIBERER, Barcelona, Spain.
  • Jiménez-Mallebrera C; Neurometabolic Diseases Laboratory, Institut d'Investìgacío Biomedíca de Bellvitge (IDIBELL), and Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Taylor RW; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.
  • Artuch R; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
  • Kirschner J; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
  • Grünert SC; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Breisgau, Germany.
  • Roos A; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Horvath R; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, Canada.
J Inherit Metab Dis ; 43(2): 297-308, 2020 03.
Article em En | MEDLINE | ID: mdl-31339582
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rabdomiólise / Encefalopatias Metabólicas / Debilidade Muscular / Doenças Mitocondriais / Proteômica / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rabdomiólise / Encefalopatias Metabólicas / Debilidade Muscular / Doenças Mitocondriais / Proteômica / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article