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Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Stenton, Sarah L; Sheremet, Natalia L; Catarino, Claudia B; Andreeva, Natalia A; Assouline, Zahra; Barboni, Piero; Barel, Ortal; Berutti, Riccardo; Bychkov, Igor; Caporali, Leonardo; Capristo, Mariantonietta; Carbonelli, Michele; Cascavilla, Maria L; Charbel Issa, Peter; Freisinger, Peter; Gerber, Sylvie; Ghezzi, Daniele; Graf, Elisabeth; Heidler, Juliana; Hempel, Maja; Heon, Elise; Itkis, Yulya S; Javasky, Elisheva; Kaplan, Josseline; Kopajtich, Robert; Kornblum, Cornelia; Kovacs-Nagy, Reka; Krylova, Tatiana D; Kunz, Wolfram S; La Morgia, Chiara; Lamperti, Costanza; Ludwig, Christina; Malacarne, Pedro F; Maresca, Alessandra; Mayr, Johannes A; Meisterknecht, Jana; Nevinitsyna, Tatiana A; Palombo, Flavia; Pode-Shakked, Ben; Shmelkova, Maria S; Strom, Tim M; Tagliavini, Francesca; Tzadok, Michal; van der Ven, Amelie T; Vignal-Clermont, Catherine; Wagner, Matias; Zakharova, Ekaterina Y; Zhorzholadze, Nino V; Rozet, Jean-Michel; Carelli, Valerio.
Affiliation
  • Stenton SL; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.
  • Sheremet NL; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Catarino CB; Federal State Budgetary Institution of Science "Research Institute of Eye Diseases," Moscow, Russia.
  • Andreeva NA; Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.
  • Assouline Z; Federal State Budgetary Institution of Science "Research Institute of Eye Diseases," Moscow, Russia.
  • Barboni P; Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France.
  • Barel O; Scientific Institute San Raffaele, Milan, Italy.
  • Berutti R; Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Bychkov I; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Caporali L; Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel.
  • Capristo M; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.
  • Carbonelli M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Cascavilla ML; Research Centre for Medical Genetics, Moscow, Russia.
  • Charbel Issa P; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Freisinger P; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Gerber S; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Ghezzi D; Scientific Institute San Raffaele, Milan, Italy.
  • Graf E; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
  • Heidler J; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.
  • Hempel M; Department of Pediatrics, Klinikum am Steinenberg, Reutlingen, Germany.
  • Heon E; Laboratory Genetics in Ophthalmology (LGO), INSERM UMR1163 - Institute of Genetic Diseases, Imagine. Paris, France.
  • Itkis YS; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Javasky E; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Kaplan J; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.
  • Kopajtich R; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Kornblum C; Functional Proteomics, Medical School, Goethe University, Frankfurt am Main, Germany.
  • Kovacs-Nagy R; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Krylova TD; The Hospital for Sick Children, Department of Ophthalmology and Vision Sciences, The University of Toronto, Toronto, Canada.
  • Kunz WS; Research Centre for Medical Genetics, Moscow, Russia.
  • La Morgia C; Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Lamperti C; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Ludwig C; Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel.
  • Malacarne PF; Laboratory Genetics in Ophthalmology (LGO), INSERM UMR1163 - Institute of Genetic Diseases, Imagine. Paris, France.
  • Maresca A; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.
  • Mayr JA; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Meisterknecht J; Department of Neurology, University Hospital Bonn, Bonn, Germany.
  • Nevinitsyna TA; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.
  • Palombo F; Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary.
  • Pode-Shakked B; Research Centre for Medical Genetics, Moscow, Russia.
  • Shmelkova MS; Department of Experimental Epileptology and Cognition Research, University of Bonn, Bonn, Germany.
  • Strom TM; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Tagliavini F; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Tzadok M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • van der Ven AT; Bavarian Center for Biomolecular Mass Spectrometry (BayBioMS), Technische Universität München, Munich, Germany.
  • Vignal-Clermont C; Institute for Cardiovascular Physiology, Goethe-University Frankfurt, Frankfurt am Main, Germany.
  • Wagner M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Zakharova EY; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria.
  • Zhorzholadze NV; Functional Proteomics, Medical School, Goethe University, Frankfurt am Main, Germany.
  • Rozet JM; Federal State Budgetary Institution of Science "Research Institute of Eye Diseases," Moscow, Russia.
  • Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
J Clin Invest ; 131(6)2021 03 15.
Article in En | MEDLINE | ID: mdl-33465056
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Optic Atrophy, Hereditary, Leber / Electron Transport Complex I / HSP40 Heat-Shock Proteins / Mutation Type of study: Etiology_studies Limits: Adolescent / Adult / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: J Clin Invest Year: 2021 Type: Article Affiliation country: Germany
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Optic Atrophy, Hereditary, Leber / Electron Transport Complex I / HSP40 Heat-Shock Proteins / Mutation Type of study: Etiology_studies Limits: Adolescent / Adult / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: J Clin Invest Year: 2021 Type: Article Affiliation country: Germany