Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Joohyun Park(University of Tübingen), Tobias B. Haack(Technical University of Munich), Benita Menden(University of Tübingen), Damian Smedley(Queen Mary University of London), Jakob Admard(University of Tübingen), Katrin Klein(University of Tübingen), Patrick F. Chinnery(Wellcome Centre for Mitochondrial Research), Bart P.C. van de Warrenburg(Radboud University Nijmegen), Claudius Bartels(Otto-von-Guericke-Universität Magdeburg), Elisa Calì(National Hospital for Neurology and Neurosurgery), Channa Hewamadduma(Royal Hallamshire Hospital), Matthis Synofzik(German Center for Neurodegenerative Diseases), Gesa-Astrid Hahn(CeGaT (Germany)), Holger Lerche(Unknown), Rita Horváth(Wellcome Centre for Mitochondrial Research), Clarissa Rocca(Institute of Human Genetics), Natalie Deininger(University of Tübingen), Andrea H. Németh(National Health Service), Christian Blahak(University of Mannheim), Tanya Lam(Great Ormond Street Hospital for Children NHS Foundation Trust), Huu Phuc Nguyen(University Hospitals of the Ruhr-University of Bochum), Marios Hadjivassiliou(Royal Hallamshire Hospital), Maren Rautenberg(University of Tübingen), Marc E. Wolf(Heidelberg University), Dagmar Timmann(Essen University Hospital), Jan Senderek(FH Aachen), Olaf Rieß(University Children's Hospital Tübingen), Nicholas Wood(National Hospital for Neurology and Neurosurgery), Letizia Vestito(Queen Mary University of London), George K. Tofaris(University of Oxford), Nienke J.H. van Os(Radboud University Nijmegen), Lüdger Schöls(German Center for Neurodegenerative Diseases), Michaela Butryn(German Center for Neurodegenerative Diseases), Evangelia Galanaki(National Hospital for Neurology and Neurosurgery), Susan M. Downes(York Hospital), Henry Houlden(University College London), May Yung Tiet(University of Cambridge), Isabell Cordts(Technical University of Munich), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Marc Sturm(University of Tübingen), Boris Maček(Quantitative BioSciences), Friedemann Bender(German Center for Neurodegenerative Diseases), Stefanie N. Hayer, Stephan Ossowski(University of Southern California), Arianna Tucci(Genomics England), Valentina Cipriani(Queen Mary University of London), Joachim K. Krauss, Ana Velić(University of Tübingen), Tim M. Strom(Ludwig-Maximilians-Universität München), German Demidov(Universitat Pompeu Fabra)
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