Authors: Shashi, Vandana, Magiera, Maria M, Klein, Dennis, Zaki, Maha, Schoch, Kelly, Rudnik-Schöneborn, Sabine, Norman, Andrew, Lopes Abath Neto, Osorio, Dusl, Marina, Yuan, Xidi, Bartesaghi, Luca, De Marco, Patrizia, Alfares, Ahmed A, Marom, Ronit, Arold, Stefan T., Guzmán-Vega, Francisco J., Pena, Loren DM, Smith, Edward C, Steinlin, Maja, Babiker, Mohamed OE, Mohassel, Payam, Foley, A. Reghan, Donkervoort, Sandra, Kaur, Rupleen, Ghosh, Partha S, Stanley, Valentina, Musaev, Damir, Nava, Caroline, Mignot, Cyril, Keren, Boris, Scala, Marcello, Tassano, Elisa, Picco, Paolo, Doneda, Paola, Fiorillo, Chiara, Issa, Mahmoud Y, Alassiri, Ali, Alahmad, Ahmed, Gerard, Amanda, Liu, Pengfei, Yang, Yaping, Ertl-Wagner, Birgit, Kranz, Peter G, Wentzensen, Ingrid M, Stucka, Rolf, Stong, Nicholas, Allen, Andrew S, Goldstein, David B, Schoser, Benedikt, Rösler, Kai M, Alfadhel, Majid, Capra, Valeria, Chrast, Roman, Strom, Tim M, Kamsteeg, Erik-Jan, Bönnemann, Carsten G, Gleeson, Joseph G, Martini, Rudolf, Janke, Carsten, Senderek, Jan, Undiagnosed Diseases Network
Contributors: Biological and Environmental Sciences and Engineering (BESE) Division, Bioscience Program, Computational Bioscience Research Center (CBRC), Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA, CNRS UMR3348, Université Paris Sud, Université Paris-Saclay, Orsay, France, Institut Curie, CNRS UMR3348, PSL Research University, Orsay, France, Department of Neurology, Developmental Neurobiology, University Hospital Würzburg, Würzburg, Germany, Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt, Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria, Department of Clinical Genetics, St. Michael's Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK, Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA, Friedrich Baur Institute at the Department of Neurology, Friedrich Baur Institute, University Hospital, LMU Munich, Munich, Germany, Department of Neuroscience and Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden, IRCCS Istituto Giannina Gaslini, Genova, Italy, Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia, Texas Children's Hospital, Houston, TX, USA, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA, Division of Neurology, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA, Division of Neuropaediatrics, Development and Rehabilitation, University Children's Hospital, Inselspital, University of Bern, Bern, Switzerland, Neurosciences Centre, Al Jalila Children's Hospital, Dubai, UAE, Department of Neurology, Boston Children's Hospital, Boston, MA, USA, Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, CA, USA, Institut du Cerveau et de la Moelle épinière, Sorbonne Universités, Inserm U1127, CNRS, UMR 7225, UPMC Univ Paris 06, Paris, France, Department of Genetics, Assistance Publique des Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France, Grande Ospedale Metropolitano Niguarda, Milano, Italy, Università degli Studi di Genova, Genova, Italy, Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia, Baylor Genetics, Houston, TX, USA, Department of Diagnostic Imaging, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, Division of Neuroradiology, Department of Radiology, Duke University Medical Center, Durham, NC, USA, GeneDx, Gaithersburg, MD, USA, Institute of Genomic Medicine, Columbia University, New York, NY, USA, Department of Biostatistics and Bioinformatics, Duke University, Durham, NC, USA, Center for Statistical Genetics and Genomics, Duke University Medical Center, Durham, NC, USA, Neuromuscular Centre, University Department of Neurology, Inselspital, Bern, Switzerland, Genetics Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia, Institute of Human Genetics, Technische Universität München, Munich, Germany, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany, Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands
Subject Terms: Cerebellum, Motor neuron, Neurodegeneration, Tubulin Polyglutamylation, Cytosolic Carboxypeptidase 1 (Ccp1/agtpbp1/nna1)
Relation: http://emboj.embopress.org/content/early/2018/11/12/embj.2018100540; Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, et al. (2018) Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. The EMBO Journal 37: e100540. Available: http://dx.doi.org/10.15252/embj.2018100540.; http://hdl.handle.net/10754/630602; The EMBO Journal
