Novel de novo mutations in KIF1A as a cause of hereditary spastic paraplegia with progressive central nervous system involvement

Por Hotchkiss, Leslie, Donkervoort, Sandra, Leach, Meganne, Mohassel, Payam, Bharucha-Goebel, Diana X., Bradley, Nathaniel, Nguyen, David, Hu, Ying, Gurgel-Giannetti, Juliana, Bönnemann, Carsten G.
Publicado no J Child Neurol (2016)