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Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.

학술저널

issue: American journal of human genetics [Am J Hum Genet] 2020 Aug 06; Vol. 107 (2), pp. 364-373. Date of Electronic Publication: 2020 Jul 23.
Author: 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), 5020 Salzburg, Austria; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, 6525 GA Nijmegen, the Netherlands.
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.
DB Label: Database : MEDLINE

원문보기: Open Access (PubMed Central) Full Text (ScienceDirect O/A) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

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