Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Twine, Nathalie"'
Autor:
Tazelaar, Gijs, Boeynaems, Steven, De Decker, Mathias, van Vugt, Joke, Kool, Lindy, Goedee, H Stephan, Mclaughlin, Russell, Sproviero, William, Iacoangeli, Alfredo, Moisse, Matthieu, Jacquemyn, Maarten, Daelemans, Dirk, Dekker, Annelot, van der Spek, Rick, Westeneng, Henk-Jan, Kenna, Kevin, Assialioui, Abdelilah, Da Silva, Nica, Millecamps, Stéphanie, Akçimen, Fulya, Al Khleifat, Ahmad, Al-Chalabi, Ammar, Andersen, Peter, Basak, A Nazli, Bauer, Denis, Blair, Ian, Brands, William, Byrne, Ross, Calvo, Andrea, Gonzalez, Yolanda Campos, Chio, Adriano, Cooper-Knock, Jonothan, Corcia, Philippe, Couratier, Philippe, De Carvalho, Mamede, Drory, Vivian, Eitan, Chen, Redondo, Alberto Garcia, Gellera, Cinzia, Glass, Jonathan, Gotkine, Marc, Hardiman, Orla, Hornstein, Eran, Kenna, Brandon, Kiernan, Matthew, Kocoglu, Cemile, Kooyman, Maarten, Landers, John, Alonso, Victoria López, Middelkoop, Bas, Mill, Jonathan, Mitne-Neto, Miguel, Mora Pardina, Jesus, Morrison, Karen, Pinto, Susana, Gromicho, Marta, Panadés, Monica Povedano, Pulit, Sara, Ratti, Antonia, Robberecht, Wim, Schellevis, Raymond, Shatunov, Aleksey, Shaw, Christopher, Shaw, Pamela, Silani, Vincenzo, Staiger, Christine, Ticozzi, Nicola, Tunca, Ceren, Twine, Nathalie, Van Damme, Philip, van den Berg, Leonard, van Doormaal, Perry, van Eijk, Kristel, van Es, Michael, van Rheenen, Wouter, Veldink, Jan, Visscher, Peter, Vourc’h, Patrick, Weber, Markus, Williams, Kelly, Wray, Naomi, Yang, Jian, Zatz, Mayana, Zhang, Katharine, Povedano, Mónica, Pardina, Jesus, Salachas, François, Pasterkamp, R Jeroen, Van Den Bosch, Ludo
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Brain Communications
Brain Communications, Oxford University Press on behalf of the Guarantors of Brain, 2020, 2 (2), ⟨10.1093/braincomms/fcaa064⟩
Universidad de Barcelona
Brain Communications
Brain Communications, Oxford University Press on behalf of the Guarantors of Brain, 2020, 2 (2), ⟨10.1093/braincomms/fcaa064⟩
Increasingly, repeat expansions are being identified as part of the complex genetic architecture of amyotrophic lateral sclerosis. To date, several repeat expansions have been genetically associated with the disease: intronic repeat expansions in C9o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8836527407f2453c462afa1f281a333d
http://hdl.handle.net/2445/174313
http://hdl.handle.net/2445/174313
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
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,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c7e3c30fc30ee39468969a05e81277
https://dspace.library.uu.nl/handle/1874/392430
https://dspace.library.uu.nl/handle/1874/392430