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Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Danhauser, Katharina; Alhaddad, Bader; Makowski, Christine; Piekutowska-Abramczuk, Dorota; Syrbe, Steffen; Gomez-Ospina, Natalia; Manning, Melanie A; Kostera-Pruszczyk, Anna; Krahn-Peper, Claudia; Berutti, Riccardo; Kovács-Nagy, Reka; Gusic, Mirjana; Graf, Elisabeth; Laugwitz, Lucia; Röblitz, Michaela; Wroblewski, Andreas; Hartmann, Hans; Das, Anibh M; Bültmann, Eva; Fang, Fang; Xu, Manting; Schatz, Ulrich A; Karall, Daniela; Zellner, Herta; Haberlandt, Edda; Feichtinger, René G; Mayr, Johannes A; Meitinger, Thomas; Prokisch, Holger; Strom, Tim M; Ploski, Rafal; Hoffmann, Georg F; Pronicki, Maciej; Bonnen, Penelope E; Morlot, Susanne; Haack, Tobias B.
Afiliação
  • Danhauser K; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University of Munich, 80337 Muni
  • Alhaddad B; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Makowski C; Department of Pediatrics, Technische Universität München, 80804 Munich, Germany.
  • Piekutowska-Abramczuk D; Department of Medical Genetics, Children's Memorial Health Institute, 04-730 Warsaw, Poland.
  • Syrbe S; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, 69120 Heidelberg, Germany.
  • Gomez-Ospina N; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Manning MA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Kostera-Pruszczyk A; Department of Neurology, Medical University of Warsaw, 02-097 Warsaw, Poland.
  • Krahn-Peper C; Sozialpädiatrisches Zentrum, Heilpädagogisch Therapeutisches Zentrum gGmbH, 56564 Neuwied, Germany.
  • Berutti R; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Kovács-Nagy R; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Gusic M; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Graf E; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Laugwitz L; Division of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tübingen, Germany; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany.
  • Röblitz M; St. Joseph Krankenhaus, Zentrum Kinder- und Jugendmedizin, Wüsthoffstr. 15, 12101 Berlin, Germany.
  • Wroblewski A; St. Joseph Krankenhaus, Zentrum Kinder- und Jugendmedizin, Wüsthoffstr. 15, 12101 Berlin, Germany.
  • Hartmann H; Clinic for Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, 30625 Hannover, Germany.
  • Das AM; Clinic for Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, 30625 Hannover, Germany.
  • Bültmann E; Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, 30625 Hannover, Germany.
  • Fang F; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100045 Beijing, China.
  • Xu M; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100045 Beijing, China.
  • Schatz UA; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Division of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Karall D; Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Zellner H; Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Haberlandt E; Clinic for Pediatrics, Krankenhaus Stadt Dornbirn, 6850 Dornbirn, Austria.
  • Feichtinger RG; Department of Pediatrics, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
  • Mayr JA; Department of Pediatrics, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
  • Meitinger T; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, German.
  • Prokisch H; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 10
  • Strom TM; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
  • Hoffmann GF; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, 69120 Heidelberg, Germany.
  • Pronicki M; Department of Pathology, Children's Memorial Health Institute, 04-730 Warsaw, Poland.
  • Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Morlot S; Institute of Human Genetics, Hannover Medical School, 30625 Hannover, Germany.
  • Haack TB; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany; Centre for Rare Diseases, University of Tuebingen, 72076 Tübingen, Germany. Electronic address: tobias.haack@med.u
Am J Hum Genet ; 103(5): 817-825, 2018 11 01.
Article em En | MEDLINE | ID: mdl-30401461
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Deficiências do Desenvolvimento / Doenças Neurodegenerativas / Glicosídeo Hidrolases / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Deficiências do Desenvolvimento / Doenças Neurodegenerativas / Glicosídeo Hidrolases / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article