Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

Journal: American Journal of Human Genetics

Published: 2018-04-05

DOI: 10.1016/j.ajhg.2018.02.014

Affiliations: 17

Authors: 28

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Institutions FC
Department of Neuropediatrics, UKSH Kiel, Germany 0.20
Institute for Biochemistry and Molecular Biology, Uni Freiburg, Germany 0.16
Department of Pediatrics, CU Anschutz, United States of America (USA) 0.14
Cook Children's Health Care System, United States of America (USA) 0.07
Faculty / Graduate School of Medicine, YCU, Japan 0.07
University Medical Center Schleswig-Holstein - Campus Kiel (UKSH Kiel), Germany 0.05
Division of Neurology, CHOP, United States of America (USA) 0.05
European ScreeningPort GmbH, Germany 0.04
Rudolf Virchow Center for Experimental Biomedicine, University of Würzburg, Germany 0.04
Department of Pathology, CU Anschutz, United States of America (USA) 0.04
Royal Melbourne Hospital (RMH), Australia 0.04
Ambry Genetics, United States of America (USA) 0.04
Victorian Clinical Genetics Services (VCGS), MCRI, Australia 0.02
Department of Paediatrics, UniMelb, Australia 0.02
Faculty of Biology, Uni Freiburg, Germany 0.02
Max Planck Institute for Molecular Genetics (MPI-MG), Germany 0.02