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Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.
Vögtle, F-Nora; Brändl, Björn; Larson, Austin; Pendziwiat, Manuela; Friederich, Marisa W; White, Susan M; Basinger, Alice; Kücükköse, Cansu; Muhle, Hiltrud; Jähn, Johanna A; Keminer, Oliver; Helbig, Katherine L; Delto, Carolyn F; Myketin, Lisa; Mossmann, Dirk; Burger, Nils; Miyake, Noriko; Burnett, Audrey; van Baalen, Andreas; Lovell, Mark A; Matsumoto, Naomichi; Walsh, Maie; Yu, Hung-Chun; Shinde, Deepali N; Stephani, Ulrich; Van Hove, Johan L K; Müller, Franz-Josef; Helbig, Ingo.
Afiliación
  • Vögtle FN; Institute of Biochemistry and Molecular Biology, ZBMZ, Faculty of Medicine, University of Freiburg, Freiburg 79104, Germany. Electronic address: nora.voegtle@biochemie.uni-freiburg.de.
  • Brändl B; Department of Psychiatry and Psychotherapy, University Hospital Schleswig Holstein, Kiel 24105, Germany.
  • Larson A; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA.
  • Pendziwiat M; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, Kiel 24105, Germany.
  • Friederich MW; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA.
  • White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Basinger A; Cook Children's Physician Network, Department of Genetics, Fort Worth, TX 76102, USA.
  • Kücükköse C; Institute of Biochemistry and Molecular Biology, ZBMZ, Faculty of Medicine, University of Freiburg, Freiburg 79104, Germany; Faculty of Biology, University of Freiburg, Freiburg 79104, Germany.
  • Muhle H; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, Kiel 24105, Germany.
  • Jähn JA; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, Kiel 24105, Germany.
  • Keminer O; Fraunhofer-Institut für Molekularbiologie und Angewandte Ökologie IME, ScreeningPort, Hamburg 22525, Germany.
  • Helbig KL; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Delto CF; Rudolf Virchow Center for Experimental Biomedicine, University of Würzburg, Würzburg 97080, Germany.
  • Myketin L; Institute of Biochemistry and Molecular Biology, ZBMZ, Faculty of Medicine, University of Freiburg, Freiburg 79104, Germany.
  • Mossmann D; Institute of Biochemistry and Molecular Biology, ZBMZ, Faculty of Medicine, University of Freiburg, Freiburg 79104, Germany.
  • Burger N; Institute of Biochemistry and Molecular Biology, ZBMZ, Faculty of Medicine, University of Freiburg, Freiburg 79104, Germany.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Burnett A; Cook Children's Physician Network, Department of Genetics, Fort Worth, TX 76102, USA.
  • van Baalen A; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, Kiel 24105, Germany.
  • Lovell MA; Department of Pathology, University of Colorado, Aurora, CO 80045, USA.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Walsh M; Adult Genetic Medicine, Royal Melbourne Hospital, Melbourne, VIC 3052, Australia.
  • Yu HC; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA.
  • Shinde DN; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • Stephani U; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, Kiel 24105, Germany.
  • Van Hove JLK; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA.
  • Müller FJ; Department of Psychiatry and Psychotherapy, University Hospital Schleswig Holstein, Kiel 24105, Germany; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany.
  • Helbig I; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, Kiel 24105, Germany; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: helbigi@email.chop.edu.
Am J Hum Genet ; 102(4): 557-573, 2018 04 05.
Article en En | MEDLINE | ID: mdl-29576218
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Metaloendopeptidasas / Dominio Catalítico / Mutación / Degeneración Nerviosa Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Metaloendopeptidasas / Dominio Catalítico / Mutación / Degeneración Nerviosa Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article Pais de publicación: Estados Unidos