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Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Müller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco, Gessica; Steinfeld, Robert; Wagner, Matias; Caglayan, Ahmet Okay; Gumus, Hakan; Burmeister, Margit; Mayatepek, Ertan; Martinelli, Diego; Tamhankar, Parag Mohan; Tamhankar, Vasundhara; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Bonnen, Penelope E; Froukh, Tawfiq; Groeschel, Samuel; Krägeloh-Mann, Ingeborg; Haack, Tobias B; Distelmaier, Felix.
Afiliação
  • Laugwitz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Seibt A; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany.
  • Herebian D; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Peralta S; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Kienzle I; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Buchert R; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany.
  • Falb R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Gauck D; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Müller A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Beck-Woedel S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Kern J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Daliri K; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany.
  • Katibeh P; Child Developmental Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Danhauser K; Institute for Neurophysiology, University of Cologne, Medical Faculty, Cologne, Germany.
  • Leiz S; Child Developmental Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Alesi V; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Baertling F; Helmholtz Zentrum Muenchen, Deutsches Forschungszentrum fuer Gesundheit und Umwelt (GmbH), Neuherberg, Germany.
  • Vasco G; Pediatric Neurology, Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany.
  • Steinfeld R; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Wagner M; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Caglayan AO; Department of Neuroscience and Neurorehabilitation, Unit of Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
  • Gumus H; University Children's Hospital Zurich, Zurich, Switzerland.
  • Burmeister M; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Mayatepek E; Helmholtz Zentrum Muenchen, Deutsches Forschungszentrum fuer Gesundheit und Umwelt (GmbH), Neuherberg, Germany.
  • Martinelli D; Department of Medical Genetics, School of Medicine, Dokuz Eylul University, Izmir, Turkey.
  • Tamhankar PM; Department of Pediatrics, Erciyes University School of Medicine, Kayseri, Turkey.
  • Tamhankar V; Michigan Neuroscience Institute, University of Michigan, Ann Arbor, Michigan, USA.
  • Joset P; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Steindl K; Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
  • Rauch A; Centre for Medical Genetics, Mulund, Mumbai, India.
  • Bonnen PE; Centre for Medical Genetics, Mulund, Mumbai, India.
  • Froukh T; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, 4056 Basel, Switzerland.
  • Groeschel S; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Krägeloh-Mann I; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Haack TB; Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Distelmaier F; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan.
J Med Genet ; 59(9): 878-887, 2022 Sep.
Article em En | MEDLINE | ID: mdl-34656997
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ubiquinona / Proteínas Mitocondriais Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ubiquinona / Proteínas Mitocondriais Idioma: En Ano de publicação: 2022 Tipo de documento: Article