Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

Undiagnosed Diseases Network, Vandana Shashi*, Maria M. Magiera, Dennis Klein, Maha Zaki, Kelly Schoch, Sabine Rudnik-Schöneborn, Andrew Norman, Osorio Lopes Abath Neto, Marina Dusl, Xidi Yuan, Luca Bartesaghi, Patrizia De Marco, Ahmed A. Alfares, Ronit Marom, Stefan T. Arold, Francisco J. Guzmán-Vega, Loren D.M. Pena, Edward C. Smith, Maja SteinlinMohamed O.E. Babiker, Payam Mohassel, A. Reghan Foley, Sandra Donkervoort, Rupleen Kaur, Partha S. Ghosh, Valentina Stanley, Damir Musaev, Caroline Nava, Cyril Mignot, Boris Keren, Marcello Scala, Elisa Tassano, Paolo Picco, Paola Doneda, Chiara Fiorillo, Mahmoud Y. Issa, Ali Alassiri, Ahmed Alahmad, Amanda Gerard, Pengfei Liu, Yaping Yang, Birgit Ertl-Wagner, Peter G. Kranz, Ingrid M. Wentzensen, Rolf Stucka, Nicholas Stong, Andrew S. Allen, David B. Goldstein, Benedikt Schoser, Kai M. Rösler

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review

74 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology

Neuroscience