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

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019-07-09

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

Neurobiology of aging · 2018-09-22

Repeats expansions in

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

IBRO neuroscience reports · 2021-02-10

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

Neurobiology of aging · 2015-12-29

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

Human molecular genetics · 2012-02-28

STRipy - STRs database (NIPA1 locus)

Investigating Repeat Expansions in

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

Cells · 2024-04-14

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

Brain : a journal of neurology · 2023-09-01

Amyotrophic lateral sclerosis and cerebellum.

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

Scientific reports · 2022-07-22

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

European journal of human genetics : EJHG · 2021-01-07

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

Brain communications · 2020-05-19

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

Neurobiology of aging · 2014-05-02

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

Clinical neurology and neurosurgery · 2011-03-17

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

Neurology · 2002-02-12

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

Human genetics · 1999-09-01