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NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Piekutowska-Abramczuk, Dorota; Assouline, Zahra; Matakovic, Lavinija; Feichtinger, René G; Konariková, Eliska; Jurkiewicz, Elzbieta; Stawinski, Piotr; Gusic, Mirjana; Koller, Andreas; Pollak, Agnieszka; Gasperowicz, Piotr; Trubicka, Joanna; Ciara, Elzbieta; Iwanicka-Pronicka, Katarzyna; Rokicki, Dariusz; Hanein, Sylvain; Wortmann, Saskia B; Sperl, Wolfgang; Rötig, Agnès; Prokisch, Holger; Pronicka, Ewa; Ploski, Rafal; Barcia, Giulia; Mayr, Johannes A.
Affiliation
  • Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
  • Assouline Z; Department of Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France.
  • Matakovic L; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
  • Feichtinger RG; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
  • Konariková E; Institute of Human Genetics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Jurkiewicz E; Department of Diagnostic Imaging, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
  • Stawinski P; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland; Department of Genetics, Institute of Physiology and Pathology of Hearing, 05-830 Warsaw/Kajetany, Poland.
  • Gusic M; Institute of Human Genetics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Koller A; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
  • Pollak A; Department of Genetics, Institute of Physiology and Pathology of Hearing, 05-830 Warsaw/Kajetany, Poland.
  • Gasperowicz P; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.
  • Trubicka J; Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
  • Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
  • Iwanicka-Pronicka K; Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
  • Rokicki D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
  • Hanein S; INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.
  • Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020 Salzburg, Austria; Institute of Human Genetics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Univers
  • Sperl W; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
  • Rötig A; INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.
  • Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Pronicka E; Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
  • Ploski R; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland. Electronic address: rploski@wp.pl.
  • Barcia G; Department of Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France.
  • Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, 5020 Salzburg, Austria. Electronic address: h.mayr@salk.at.
Am J Hum Genet ; 102(3): 460-467, 2018 03 01.
Article in En | MEDLINE | ID: mdl-29429571
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Leigh Disease / Mitochondrial Diseases / Electron Transport Complex I / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2018 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Leigh Disease / Mitochondrial Diseases / Electron Transport Complex I / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2018 Document type: Article Affiliation country: