Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
Ana Töpf(NIHR Newcastle Biomedical Research Centre), Rachel Thompson(University of Nottingham), Francesco Musacchia(University of Campania "Luigi Vanvitelli"), Robert D. S. Pitceathly(National Hospital for Neurology and Neurosurgery), Rita Selvatici(University of Campania "Luigi Vanvitelli"), Michael G. Hanna(National Hospital for Neurology and Neurosurgery), Katherine Schon(University of Cambridge), Enzo Cohen(Inserm), William L. Macken(Princess Anne Hospital), Peter Hackman(Folkhälsans Forskningscentrum), Isabelle Nelson(University of Bonn), Jarred Lau(Children's Hospital of Eastern Ontario), Christian Gilissen(Radboud University Nijmegen), Gisèle Bonne(Stanford University), Peter N. Robinson(Jackson Laboratory), Vincenzo Nigro(University of Campania "Luigi Vanvitelli"), Veronica Pini(Great Ormond Street Hospital), Daniel Daniš(Jackson Laboratory), Alessandra Ferlini(University of Ferrara), Angela Pyle(Wellcome Centre for Mitochondrial Research), Leslie Matalonga(Centre for Genomic Regulation), Joeri K. van der Velde(University Medical Center Groningen), Anna Sárközy(Great Ormond Street Hospital), Helen Griffin(NIHR Newcastle Biomedical Research Centre), Sophia Peters(University of Bonn), Antonio Vitobello(Inserm), A. Nascimento(Centre for Biomedical Network Research on Rare Diseases), Hanns Lochmüller(University of Ottawa), Giulio Piluso(University of Campania "Luigi Vanvitelli"), Wouter Steyaert(Ghent University Hospital), Anne‐Sophie Denommé‐Pichon(Inserm), Pedro M. Rodríguez Cruz(Centre Hospitalier National Universitaire de Fann), Jonathan Baets(University of Antwerp), Henry Houlden(Queen Mary University of London), Marco Savarese(Folkhälsans Forskningscentrum), Daniel Natera‐de Benito(Hospital Sant Joan de Déu Barcelona), Ida Paramonov(Universitat Pompeu Fabra), Steven Laurie(Centre for Genomic Regulation), Judith Cossins(University of Ferrara), Shuang Li(Sun Yat-sen University), Yannis Duffourd(Radboud University Nijmegen), Kiran Polavarapu(University of Freiburg), Karolis Sablauskas(University of Helsinki), Danique Beijer(University of Antwerp), Prasanth Sivakumar(Jackson Laboratory), Isabel Cuesta(Instituto de Salud Carlos III), Teresinha Evangelista, Mridul Johari(University of Helsinki)
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