首页> European journal of human genetics : EJHG> Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).

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第一作者： Ana,Töpf

第一单位： John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

作者： Ana,Töpf ^[1] ; Angela,Pyle ^[2] ; Helen,Griffin ^[3] ; Leslie,Matalonga ^[4] ; Katherine,Schon ^[5] ; Solve-RD SNV-indel working group ^[6] ; Solve-RD DITF-euroNMD ^[7] ; Albert,Sickmann ^[8] ; Ulrike,Schara-Schmidt ^[5] ; Andreas,Hentschel ^[7] ; Patrick F,Chinnery ^[9] ; Heike,Kölbel ^[10] ; Andreas,Roos ; Rita,Horvath

作者单位： John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. ^[1] Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK. ^[2] Primary Immunodeficiency Group, Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK. ^[3] CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain. ^[4] Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.;MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK. ^[5] Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., Dortmund, Germany.;Department of Chemistry, College of Physical Sciences, University of Aberdeen, Aberdeen, Scotland, UK.;Medizinische Proteom-Center (MPC), Medizinische Fakultät, Ruhr-Universität Bochum, Bochum, Germany. ^[6] Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Children's Hospital University of Essen, Essen, Germany. ^[7] Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., Dortmund, Germany. ^[8] Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Children's Hospital University of Essen, Essen, Germany. Andreas.Roos@uk-essen.de. ^[9] Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK. rh732@medschl.cam.ac.uk. ^[10]