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

Autor: Tazelaar, Gij SHP, Dekker, Annelot M, van Vugt, Joke JFA, van der Spek, Rick A, Westeneng, Henk-Jan, Kool, Lindy JBG, Kenna, Kevin P, van Rheenen, Wouter, Pulit, Sara L, McLaughlin, Russell L, Sproviero, William, Iacoangeli, Alfredo, Huebers, Annemarie, Brenner, David, Morrison, Karen E, Shaw, Pamela J, Shaw, Christopher E, Povedano Panades, Monica, 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, Akcimen, Fulya, Al Khleifat, Ahmad, Andersen, Peter, Basak, A Nazli, Bauer, Denis C, Blair, Ian, Brands, William J, Byrne, Ross P, Calvo, Andrea, Gonzalez, Yolanda Campos, Chio, Adriano, Cooper-Knock, Jonothan, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian E, Eitan, Chen, Garcia Redondo, Alberto, Gellera, Cinzia, Gotkine, Marc, Hornstein, Eran, Kenna, Brendan, Kiernan, Matthew C, Kocoglu, Cemile, Kooyman, Maarten, Lopez Alonso, Victoria, Middelkoop, Bas, Mill, Jonathan, Mitne-Neto, Miguel, Moisse, Matthieu, Pinto, Susana C, Ratti, Antonia, Schellevis, Raymond D, Shatunov, Aleksey, Silani, Vincenzo, Staiger, Christine, Tazelaar, Gijs HP, Ticozzi, Nicola, Tunca, Ceren, Twine, Nathalie A, van Doormaal, Perry TC, van Eijk, Kristel R, Visscher, Peter M, Vourch, Patrick, Weber, Markus, Williams, Kelly L, Wray, Naomi, Yang, Jian, Zatz, Mayana, Zhang, Katharine

Publikováno v: Neurobiology of Aging, 74, 234.e9. Elsevier Inc.
Tazelaar, G HP, Dekker, A M, van Vugt, J JFA, van der Spek, R A, Westeneng, H-J, Kool, L JBG, 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 2018, ' Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort ', Neurobiology of Aging . https://doi.org/10.1016/j.neurobiolaging.2018.09.012
Neurobiol Aging

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,

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https://dspace.library.uu.nl/handle/1874/392430