Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

Journal: American Journal of Human Genetics

Published: 2018-11-01

DOI: 10.1016/j.ajhg.2018.10.005

Affiliations: 25

Authors: 36

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Institutions FC
TUM-HMGU Institute of Human Genetics (IHG), Germany 0.25
National Center for Children's Health, Beijing Children's Hospital, China 0.06
Department of Paediatric Kidney, Liver and Metabolic Diseases, MHH, Germany 0.06
Klinik für Kinder- und Jugendheilkunde, PMU, Austria 0.06
Department of Child and Adolescent Health, MUI, Austria 0.06
Zentrum Kinder- und Jugendmedizin, St. Joseph Krankenhaus, Germany 0.06
University Childrens Hospital, Uni Heidelberg, Germany 0.06
Children's Memorial Health Institute (CMHI), Poland 0.06
Department of Human Genetics, MHH, Germany 0.03
Department of Molecular and Human Genetics, BCM, United States of America (USA) 0.03
Department of Medical Genetics, MUW, Poland 0.03
Klinik und Poliklinik für Kinder- und Jugendmedizin (Kinderklinik München Schwabing), Germany 0.03
Clinic for Pediatrics, Krankenhaus Stadt Dornbirn, Austria 0.03
Department of Neurology, MUW, Poland 0.03
Sozialpädiatrisches Zentrum, HTZ, Germany 0.03
Institute of Diagnostic and Interventional Neuroradiology, MHH, Germany 0.03
Stanford Department of Pathology, United States of America (USA) 0.03
Stanford Division of Medical Genetics, United States of America (USA) 0.03
Institute of Medical Genetics and Applied Genomics, Uni Tübingen, Germany 0.02
Division of Human Genetics, MUI, Austria 0.01
University Children's Hospital Tübingen, Uni Tübingen, Germany 0.01
Centre for Rare Diseases (ZSE), Uni Tübingen, Germany 0.01
Department of Pediatrics, LMU, Germany 0.01

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