Tazelaar, Gijs H P; Dekker, Annelot M; van Vugt, Joke J F A; van der Spek, Rick A; Westeneng, Henk-Jan; Kool, Lindy J B G; Kenna, Kevin P; van Rheenen, Wouter; Pulit, Sara L; McLaughlin, Russell L; Sproviero, William; Iacoangeli, Alfredo; Hübers, Annemarie; Brenner, David; Morrison, Karen E; Shaw, Pamela J; Shaw, Christopher E; Panadés, Monica Povedano; Mora Pardina, Jesus S; Glass, Jonathan D; Hardiman, Orla; Al-Chalabi, Ammar; van Damme, Philip; Robberecht, Wim; Landers, John E; Ludolph, Albert C; Weishaupt, Jochen H; van den Berg, Leonard H; Veldink, Jan H; van Es, Michael A; Project MinE ALS Sequencing Consortium
(Elsevier, 2019-02)
NIPA1 (nonimprinted in Prader-Willi/Angelman syndrome 1) mutations are known to cause hereditary spastic paraplegia type 6, a neurodegenerative disease that phenotypically overlaps to some extent with amyotrophic lateral ...