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

Journal: American Journal of Human Genetics

Published: 2020-08-06

DOI: 10.1016/j.ajhg.2020.06.015

Affiliations: 35

Authors: 46

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Institutions Share
Institute of Medical Genetics and Applied Genomics, Uni Tübingen, Germany 0.14
University Children's Hospital Tübingen, Uni Tübingen, Germany 0.08
Department of Pediatrics, U of A, Canada 0.07
Institute of Human Genetics, FSU, Germany 0.07
TUM-HMGU Institute of Human Genetics (IHG), Germany 0.06
Klinik für Kinder- und Jugendheilkunde, PMU, Austria 0.05
Jena University Hospital (UKJ), FSU, Germany 0.04
Department of Molecular and Human Genetics, BCM, United States of America (USA) 0.04
TUM Department of Neurology, Germany 0.04
Leibniz Institute on Aging - Fritz Lipmann Institute (FLI), Germany 0.03
Department of Neurology, Uni Bonn, Germany 0.03
Genetics Research Center (GRC), University of Social Welfare and Rehabilitation Sciences, Iran 0.02
Iranian Center of Neurological Research, TUMS, Iran 0.02
Yale Center for Genome Analysis (YCGA), United States of America (USA) 0.02
University Hospital Tübingen (UKT), Uni Tübingen, Germany 0.02
Centre for Rare Diseases (ZSE), Uni Tübingen, Germany 0.02
College of Medicine - Phoenix, Arizona, United States of America (USA) 0.02
Barrow Neurological Institute, Phoenix Children's Hospital, United States of America (USA) 0.02
Developmental Brain Disorders Laboratory (DBD), Imagine Institute, France 0.02
Department of Paediatric Kidney, Liver and Metabolic Diseases, MHH, Germany 0.02
Vestische Kinder- und Jugendklinik Datteln, UW/H, Germany 0.02
Friedrich-Baur-Institute, LMU, Germany 0.02
DZNE Site Munich, Germany 0.02
Cluster of Excellence - Munich Cluster for Systems Neurology (SyNergy), LMU, Germany 0.01
School of Medicine, SEMUMS, Iran 0.01
Cancer Research Center, SEMUMS, Iran 0.01
Faculty of Biological Sciences, FSU, Germany 0.01
Faculty of Medicine, University of Algiers - Benyoucef Benkhedda, Algeria 0.01
German Center for Neurodegenerative Diseases within the Helmholtz Association (DZNE), Germany 0.01
Hopital Benaknoun, Algeria 0.01
Institute of Neurogenomics (ING), HMGU, Germany 0.01
Radboud Center for Mitochondrial Medicine (RCMM), RU, Netherlands 0
Department of Pediatrics, RU, Netherlands 0
Radboudumc Amalia kinderziekenhuis, Netherlands 0

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