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CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
Authors:Ashleigh E Schaffer  Veerle RC Eggens  Ahmet Okay Caglayan  Miriam S Reuter  Eric Scott  Nicole G Coufal  Jennifer L Silhavy  Yuanchao Xue  Hulya Kayserili  Katsuhito Yasuno  Rasim Ozgur Rosti  Mostafa Abdellateef  Caner Caglar  Paul R Kasher  J Leonie Cazemier  Marian A Weterman  Vincent Cantagrel  Na Cai  Christiane Zweier  Umut Altunoglu  N Bilge Satkin  Fesih Aktar  Beyhan Tuysuz  Cengiz Yalcinkaya  Huseyin Caksen  Kaya Bilguvar  Xiang-Dong Fu  Christopher R Trotta  Stacey Gabriel  André Reis  Murat Gunel  Frank Baas  Joseph G Gleeson
Institution:1 Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA;2 Department of Genome Analysis, Academic Medical Center, Meibergdreef 9,1105AZ Amsterdam, the Netherlands;3 Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT 06510, USA;4 Institute of Human Genetics, Universität Erlangen-Nürnberg, Schwabachanlage 10, Erlangen 91054, Germany;5 Cellular Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA;6 Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet Caddesi, 34093 Fatih/Istanbul, Turkey;7 Institut IMAGINE, INSERM U1163, Faculté Paris-Descartes, 75015 Paris, France;8 Department of Pediatrics, Diyarbakir State Hospital, 21100 Diyarbakir, Turkey;9 Department of Pediatric Genetics, Cerrahpa?a Medical School, Istanbul University, 34098 Istanbul, Turkey;10 Department of Neurology, Division of Child Neurology, Cerrahpa?a Medical School, Istanbul University, 34098 Istanbul, Turkey;11 Department of Pediatrics, Meram Medical School, Necmettin Erbakan University, 42080 Konya, Turkey;12 PTC Therapeutics, South Plainfield, NJ 07080, USA;13 Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA
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