Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

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Tazelaar, G.H.P.; Dekker, A.M.; van Vugt, J.J.F.A.; van der Spek, R.A.; Westeneng, H.-J.; Kool, L.J.B.G.; Kenna, K.P.; van Rheenen, W.; Pulit, S.L.; McLaughlin, R.L.; Sproviero, W.; Iacoangeli, A.; Hübers, A.; Brenner, D.; Morrison, K.E.; Shaw, P.J.; Shaw, C.E.; Panadés, M.P.; Mora Pardina, J.S.; Glass, J.D.; Hardiman, O.; Al-Chalabi, A.; van Damme, P.; Robberecht, W.; Landers, J.E.; Ludolph, A.C.; Weishaupt, J.H.; van den Berg, L.H.; Veldink, J.H.; van Es, M.A.; ... view all 31 authors
(2018)
  • Publisher: Elsevier

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 sclerosis (ALS). Previously, a genomewide screen ... View more
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