Your browser doesn't support javascript.
loading
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
Melchionda, Laura; Haack, Tobias B; Hardy, Steven; Abbink, Truus E M; Fernandez-Vizarra, Erika; Lamantea, Eleonora; Marchet, Silvia; Morandi, Lucia; Moggio, Maurizio; Carrozzo, Rosalba; Torraco, Alessandra; Diodato, Daria; Strom, Tim M; Meitinger, Thomas; Tekturk, Pinar; Yapici, Zuhal; Al-Murshedi, Fathiya; Stevens, René; Rodenburg, Richard J; Lamperti, Costanza; Ardissone, Anna; Moroni, Isabella; Uziel, Graziella; Prokisch, Holger; Taylor, Robert W; Bertini, Enrico; van der Knaap, Marjo S; Ghezzi, Daniele; Zeviani, Massimo.
Afiliação
  • Melchionda L; Unit of Molecular Neurogenetics, Foundation IRCCS Institute of Neurology Besta, 20126 Milan, Italy.
  • Haack TB; Institute of Human Genetics, Technische Universität München, Munich 81675, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany.
  • Hardy S; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE1 7RU, UK.
  • Abbink TE; Departments of Child Neurology and Functional Genomics, Neuroscience Campus Amsterdam, VU University and VU University Medical Center, Amsterdam 1081 HV, the Netherlands.
  • Fernandez-Vizarra E; MRC Mitochondrial Biology Unit, Cambridge CB2 0XY, UK.
  • Lamantea E; Unit of Molecular Neurogenetics, Foundation IRCCS Institute of Neurology Besta, 20126 Milan, Italy.
  • Marchet S; Unit of Molecular Neurogenetics, Foundation IRCCS Institute of Neurology Besta, 20126 Milan, Italy.
  • Morandi L; Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Institute of Neurology Besta, 20133 Milan, Italy.
  • Moggio M; Neuromuscular Unit, Department of Neurology, Centro Dino Ferrari, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, 20122 Milan, Italy.
  • Carrozzo R; Unit of Neuromuscular Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, 00165 Rome, Italy.
  • Torraco A; Unit of Neuromuscular Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, 00165 Rome, Italy.
  • Diodato D; Unit of Molecular Neurogenetics, Foundation IRCCS Institute of Neurology Besta, 20126 Milan, Italy; Unit of Neuromuscular Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, 00165 Rome, Italy.
  • Strom TM; Institute of Human Genetics, Technische Universität München, Munich 81675, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany.
  • Meitinger T; Institute of Human Genetics, Technische Universität München, Munich 81675, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany.
  • Tekturk P; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34098 Istanbul, Turkey.
  • Yapici Z; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34098 Istanbul, Turkey.
  • Al-Murshedi F; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat 123, Oman.
  • Stevens R; Department of Paediatrics, CHC Clinique de l'Espérance at Liège, Liège 4000, Belgium.
  • Rodenburg RJ; Nijmegen Center for Mitochondrial Disorders, Laboratory for Genetic, Endocrine, and Metabolic Disorders, Department of Pediatrics, Radboud University Medical Center, 9101 Nijmegen, the Netherlands.
  • Lamperti C; Unit of Molecular Neurogenetics, Foundation IRCCS Institute of Neurology Besta, 20126 Milan, Italy.
  • Ardissone A; Department of Child Neurology, Foundation IRCCS Institute of Neurology Besta, 20133 Milan, Italy.
  • Moroni I; Department of Child Neurology, Foundation IRCCS Institute of Neurology Besta, 20133 Milan, Italy.
  • Uziel G; Department of Child Neurology, Foundation IRCCS Institute of Neurology Besta, 20133 Milan, Italy.
  • Prokisch H; Institute of Human Genetics, Technische Universität München, Munich 81675, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany.
  • Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE1 7RU, UK.
  • Bertini E; Unit of Neuromuscular Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, 00165 Rome, Italy.
  • van der Knaap MS; Departments of Child Neurology and Functional Genomics, Neuroscience Campus Amsterdam, VU University and VU University Medical Center, Amsterdam 1081 HV, the Netherlands.
  • Ghezzi D; Unit of Molecular Neurogenetics, Foundation IRCCS Institute of Neurology Besta, 20126 Milan, Italy. Electronic address: dghezzi@instituto-besta.it.
  • Zeviani M; Unit of Molecular Neurogenetics, Foundation IRCCS Institute of Neurology Besta, 20126 Milan, Italy; MRC Mitochondrial Biology Unit, Cambridge CB2 0XY, UK. Electronic address: mdz21@mrc-mbu.cam.ac.uk.
Am J Hum Genet ; 95(3): 315-25, 2014 Sep 04.
Article em En | MEDLINE | ID: mdl-25175347
Assuntos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Complexo IV da Cadeia de Transporte de Elétrons / Proteínas Mitocondriais / Proteínas Reguladoras de Apoptose / Leucoencefalopatias / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Itália
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Complexo IV da Cadeia de Transporte de Elétrons / Proteínas Mitocondriais / Proteínas Reguladoras de Apoptose / Leucoencefalopatias / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Itália