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Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Husain, Ralf A; Grimmel, Mona; Wagner, Matias; Hennings, J Christopher; Marx, Christian; Feichtinger, René G; Saadi, Abdelkrim; Rostásy, Kevin; Radelfahr, Florentine; Bevot, Andrea; Döbler-Neumann, Marion; Hartmann, Hans; Colleaux, Laurence; Cordts, Isabell; Kobeleva, Xenia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C; Besse, Arnaud; Ng, Andy Cheuk-Him; Chiang, Diana; Bolduc, Francois; Tafakhori, Abbas; Mane, Shrikant; Ghasemi Firouzabadi, Saghar; Huebner, Antje K; Buchert, Rebecca; Beck-Woedl, Stefanie; Müller, Amelie J; Laugwitz, Lucia; Nägele, Thomas; Wang, Zhao-Qi; Strom, Tim M; Sturm, Marc; Meitinger, Thomas; Klockgether, Thomas; Riess, Olaf; Klopstock, Thomas; Brandl, Ulrich; Hübner, Christian A; Deschauer, Marcus; Mayr, Johannes A; Bonnen, Penelope E; Krägeloh-Mann, Ingeborg; Wortmann, Saskia B; Haack, Tobias B.
Afiliación
  • Husain RA; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.
  • Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany.
  • Wagner M; Institute of Human Genetics, Technical University of Munich (TUM), School of Medicine, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Hennings JC; Institute of Human Genetics, Jena University Hospital, 07747 Jena, Germany.
  • Marx C; Leibniz Institute on Aging - Fritz Lipmann Institute (FLI), 07745 Jena, Germany.
  • Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
  • Saadi A; Department of Neurology, Ben Aknoun Hospital, Benyoucef Benkhedda University, 16028 Algiers, Algeria.
  • Rostásy K; Department of Pediatric Neurology, Children's Hospital Datteln, Witten/Herdecke University, 45711 Datteln, Germany.
  • Radelfahr F; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, 80336 Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.
  • Bevot A; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tübingen, Germany.
  • Döbler-Neumann M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tübingen, Germany.
  • Hartmann H; Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases, Hannover Medical School, 30625 Hannover, Germany.
  • Colleaux L; INSERM UMR1163, Developmental Brain Disorders Laboratory, Imagine Institute, Paris-Descartes University, Paris, France.
  • Cordts I; Department of Neurology, Technische Universität München, School of Medicine, 81675 Munich, Germany.
  • Kobeleva X; Department of Neurology, University of Bonn, 53127 Bonn, Germany.
  • Darvish H; Cancer Research Center and Department of Medical Genetics, School of Medicine, Semnan University of Medical Sciences, Semnan, Iran.
  • Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital & University of Arizona College of Medicine, Phoenix, AZ 85004, USA.
  • Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital & University of Arizona College of Medicine, Phoenix, AZ 85004, USA.
  • Besse A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Ng AC; Division of Pediatric Neurology, Department of Pediatrics, University of Alberta, Edmonton, AB T6G 2R3, Canada.
  • Chiang D; Division of Pediatric Neurology, Department of Pediatrics, University of Alberta, Edmonton, AB T6G 2R3, Canada.
  • Bolduc F; Division of Pediatric Neurology, Department of Pediatrics, University of Alberta, Edmonton, AB T6G 2R3, Canada.
  • Tafakhori A; Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
  • Mane S; Yale Center for Genome Analysis, Yale University School of Medicine, West Haven, CT 06516, USA.
  • Ghasemi Firouzabadi S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Huebner AK; Institute of Human Genetics, Jena University Hospital, 07747 Jena, Germany.
  • Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany.
  • Beck-Woedl S; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany.
  • Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany.
  • Laugwitz L; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tübingen, Germany.
  • Nägele T; Department of Neuroradiology, University Hospital Tuebingen, 72072 Tübingen, Germany.
  • Wang ZQ; Leibniz Institute on Aging - Fritz Lipmann Institute (FLI), 07745 Jena, Germany; Faculty of Biological Sciences, Friedrich Schiller University Jena, 07743 Jena, Germany.
  • Strom TM; Institute of Human Genetics, Technical University of Munich (TUM), School of Medicine, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany.
  • Meitinger T; Institute of Human Genetics, Technical University of Munich (TUM), School of Medicine, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.
  • Klockgether T; Department of Neurology, University of Bonn, 53127 Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany.
  • Riess O; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany; Centre for Rare Diseases, University of Tuebingen, 72076 Tübingen, Germany.
  • Klopstock T; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, 80336 Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.
  • Brandl U; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.
  • Hübner CA; Institute of Human Genetics, Jena University Hospital, 07747 Jena, Germany.
  • Deschauer M; Department of Neurology, Technische Universität München, School of Medicine, 81675 Munich, Germany.
  • Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
  • Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Krägeloh-Mann I; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tübingen, Germany.
  • Wortmann SB; Institute of Human Genetics, Technical University of Munich (TUM), School of Medicine, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5
  • Haack TB; 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.uni-tuebingen.de.
Am J Hum Genet ; 107(2): 364-373, 2020 08 06.
Article en En | MEDLINE | ID: mdl-32707086
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Encefalopatías / Paraplejía Espástica Hereditaria / Enfermedades Neurodegenerativas / Proteínas Mitocondriales Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Alemania
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Encefalopatías / Paraplejía Espástica Hereditaria / Enfermedades Neurodegenerativas / Proteínas Mitocondriales Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Alemania