Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

Gladys Montenegro, Adriana P. Rebelo, James Connell, Rachel Allison, Carla Babalini, Michela D'Aloia, Pasqua Montieri, Rebecca Schüle, Hiroyuki Ishiura, Justin Price, Alleene Strickland, Michael A. Gonzalez, Lisa Baumbach-Reardon, Tine Deconinck, Jia Huang, Giorgio Bernardi, Jeffery M. Vance, Mark T. Rogers, Shoji Tsuji, Peter De JongheMargaret A. Pericak-Vance, Ludger Schöls, Antonio Orlacchio, Evan Reid, Stephan Züchner

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Medicine & Life Sciences