ALS1 NIPA1

Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort.

Lucia,Corrado, Maura,Brunetti, Alice,Di Pierro, Marco,Barberis, Roberta,Croce, Enrica,Bersano, Fabiola,De Marchi, Miriam,Zuccalà, Nadia,Barizzone, Andrea,Calvo, Cristina,Moglia, Letizia,Mazzini, Adriano,Chiò, Sandra,D'Alfonso

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

Gijs H P,Tazelaar, Annelot M,Dekker, Joke J F A,van Vugt, Rick A,van der Spek, Henk-Jan,Westeneng, Lindy J B G,Kool, Kevin P,Kenna, Wouter,van Rheenen, Sara L,Pulit, Russell L,McLaughlin, William,Sproviero, Alfredo,Iacoangeli, Annemarie,Hübers, David,Brenner, Karen E,Morrison, Pamela J,Shaw, Christopher E,Shaw, Monica Povedano,Panadés, Jesus S,Mora Pardina, Jonathan D,Glass, Orla,Hardiman, Ammar,Al-Chalabi, Philip,van Damme, Wim,Robberecht, John E,Landers, Albert C,Ludolph, Jochen H,Weishaupt, Leonard H,van den Berg, Jan H,Veldink, Michael A,van Es

Melissa,Nel, Thandeka,Mavundla, Kayleigh,Gultig, Gerrit,Botha, Nicola,Mulder, Michael,Benatar, Joanne,Wuu, Anne,Cooley, Jason,Myers, Evadnie,Rampersaud, Gang,Wu, Jeannine M,Heckmann

Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers.

Annelot M,Dekker, Meinie,Seelen, Perry T C,van Doormaal, Wouter,van Rheenen, Reinoud J P,Bothof, Tim,van Riessen, William J,Brands, Anneke J,van der Kooi, Marianne,de Visser, Nicol C,Voermans, R Jeroen,Pasterkamp, Jan H,Veldink, Leonard H,van den Berg, Michael A,van Es

NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.

Hylke M,Blauw, Wouter,van Rheenen, Max,Koppers, Philip,Van Damme, Stefan,Waibel, Robin,Lemmens, Paul W J,van Vught, Thomas,Meyer, Claudia,Schulte, Thomas,Gasser, Edwin,Cuppen, R Jeroen,Pasterkamp, Wim,Robberecht, Albert C,Ludolph, Jan H,Veldink, Leonard H,van den Berg

STRipy - STRs database (NIPA1 locus)

Paola,Ruffo, Francesca,De Amicis, Vincenzo,La Bella, Francesca Luisa,Conforti

Genetic variability in sporadic amyotrophic lateral sclerosis.

Sien Hilde,Van Daele, Matthieu,Moisse, Joke J F A,van Vugt, Ramona A J,Zwamborn, Rick,van der Spek, Wouter,van Rheenen, Kristel,Van Eijk, Kevin,Kenna, Philippe,Corcia, Patrick,Vourc'h, Philippe,Couratier, Orla,Hardiman, Russell,McLaughin, Marc,Gotkine, Vivian,Drory, Nicola,Ticozzi, Vincenzo,Silani, Antonia,Ratti, Mamede,de Carvalho, Jesús S,Mora Pardina, Monica,Povedano, Peter M,Andersen, Markus,Weber, Nazli A,Başak, Chris,Shaw, Pamela J,Shaw, Karen E,Morrison, John E,Landers, Jonathan D,Glass, Michael A,van Es, Leonard H,van den Berg, Ammar,Al-Chalabi, Jan,Veldink, Philip,Van Damme

Amyotrophic lateral sclerosis and cerebellum.

Renata,Kabiljo, Alfredo,Iacoangeli, Ammar,Al-Chalabi, Ivana,Rosenzweig

Genetic analysis of ALS cases in the isolated island population of Malta.

Rebecca,Borg, Maia,Farrugia Wismayer, Karl,Bonavia, Andrew,Farrugia Wismayer, Malcolm,Vella, Joke J F A,van Vugt, Brendan J,Kenna, Kevin P,Kenna, Neville,Vassallo, Jan H,Veldink, Ruben J,Cauchi

Gijs H P,Tazelaar, Steven,Boeynaems, Mathias,De Decker, Joke J F A,van Vugt, Lindy,Kool, H Stephan,Goedee, Russell L,McLaughlin, William,Sproviero, Alfredo,Iacoangeli, Matthieu,Moisse, Maarten,Jacquemyn, Dirk,Daelemans, Annelot M,Dekker, Rick A,van der Spek, Henk-Jan,Westeneng, Kevin P,Kenna, Abdelilah,Assialioui, Nica,Da Silva, Mónica,Povedano, Jesus S Mora,Pardina, Orla,Hardiman, François,Salachas, Stéphanie,Millecamps, Patrick,Vourc'h, Philippe,Corcia, Philippe,Couratier, Karen E,Morrison, Pamela J,Shaw, Christopher E,Shaw, R Jeroen,Pasterkamp, John E,Landers, Ludo,Van Den Bosch, Wim,Robberecht, Ammar,Al-Chalabi, Leonard H,van den Berg, Philip,Van Damme, Jan H,Veldink, Michael A,van Es

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.

Marka,van Blitterswijk, Bianca,Mullen, Michael G,Heckman, Matthew C,Baker, Mariely,DeJesus-Hernandez, Patricia H,Brown, Melissa E,Murray, Ging-Yuek R,Hsiung, Heather,Stewart, Anna M,Karydas, Elizabeth,Finger, Andrew,Kertesz, Eileen H,Bigio, Sandra,Weintraub, Marsel,Mesulam, Kimmo J,Hatanpaa, Charles L,White, Manuela,Neumann, Michael J,Strong, Thomas G,Beach, Zbigniew K,Wszolek, Carol,Lippa, Richard,Caselli, Leonard,Petrucelli, Keith A,Josephs, Joseph E,Parisi, David S,Knopman, Ronald C,Petersen, Ian R,Mackenzie, William W,Seeley, Lea T,Grinberg, Bruce L,Miller, Kevin B,Boylan, Neill R,Graff-Radford, Bradley F,Boeve, Dennis W,Dickson, Rosa,Rademakers

Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1.

Juan,Du, Ya-Cen,Hu, Bei-Sha,Tang, Chong,Chen, Ying-Ying,Luo, Zi-Xiong,Zhan, Guo-Hua,Zhao, Hong,Jiang, Kun,Xia, Lu,Shen

Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorder.

P,Hedera, S,Rainier, X P,Zhao, M,Schalling, K,Lindblad, Q-P,Yuan, T,Ikeuchi, J,Trobe, J J,Wald, O P,Eldevik, K,Kluin, J K,Fink

Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation.

J,Del-Favero, D,Goossens, P,De Jonghe, K,Benson, A,Michalik, D,Van den Bossche, M,Horwitz, C,Van Broeckhoven