Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: Amyotrophic Lateral Sclerosis and NIPA1[original query] |
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A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Human molecular genetics 2010 Oct 19 (20): 4091-9. Blauw Hylke M, Al-Chalabi Ammar, Andersen Peter M, van Vught Paul W J, Diekstra Frank P, van Es Michael A, Saris Christiaan G J, Groen Ewout J N, van Rheenen Wouter, Koppers Max, Van't Slot Ruben, Strengman Eric, Estrada Karol, Rivadeneira Fernando, Hofman Albert, Uitterlinden Andre G, Kiemeney Lambertus A, Vermeulen Sita H M, Birve Anna, Waibel Stefan, Meyer Thomas, Cronin Simon, McLaughlin Russell L, Hardiman Orla, Sapp Peter C, Tobin Martin D, Wain Louise V, Tomik Barbara, Slowik Agnieszka, Lemmens Robin, Rujescu Dan, Schulte Claudia, Gasser Thomas, Brown Robert H, Landers John E, Robberecht Wim, Ludolph Albert C, Ophoff Roel A, Veldink Jan H, van den Berg Leonard |
NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. Human molecular genetics 2012 Jun 21 (11): 2497-502. Blauw Hylke M, van Rheenen Wouter, Koppers Max, Van Damme Philip, Waibel Stefan, Lemmens Robin, van Vught Paul W J, Meyer Thomas, Schulte Claudia, Gasser Thomas, Cuppen Edwin, Pasterkamp R Jeroen, Robberecht Wim, Ludolph Albert C, Veldink Jan H, van den Berg Leonard |
Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers. Neurobiology of aging 2015 Dec . Dekker Annelot M, Seelen Meinie, van Doormaal Perry T C, van Rheenen Wouter, Bothof Reinoud J P, van Riessen Tim, Brands William J, van der Kooi Anneke J, de Visser Marianne, Voermans Nicol C, Pasterkamp R Jeroen, Veldink Jan H, van den Berg Leonard H, van Es Michael |
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort. Neurobiology of aging 2019 02 74 234.e9-234.e15. Tazelaar Gijs H P, Dekker Annelot M, van Vugt Joke J F A, van der Spek Rick A, Westeneng Henk-Jan, Kool Lindy J B G, Kenna Kevin P, van Rheenen Wouter, Pulit Sara L, McLaughlin Russell L, Sproviero William, Iacoangeli Alfredo, Hübers Annemarie, Brenner David, Morrison Karen E, Shaw Pamela J, Shaw Christopher E, Panadés Monica Povedano, 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, |
Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2019 7 40 (12): 2537-2540. Corrado Lucia, Brunetti Maura, Di Pierro Alice, Barberis Marco, Croce Roberta, Bersano Enrica, De Marchi Fabiola, Zuccalà Miriam, Barizzone Nadia, Calvo Andrea, Moglia Cristina, Mazzini Letizia, Chiò Adriano, D'Alfonso Sand |
Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans. IBRO neuroscience reports 2021 6 10 130-135. Nel Melissa, Mavundla Thandeka, Gultig Kayleigh, Botha Gerrit, Mulder Nicola, Benatar Michael, Wuu Joanne, Cooley Anne, Myers Jason, Rampersaud Evadnie, Wu Gang, Heckmann Jeannine |
Genetic analysis of ALS cases in the isolated island population of Malta. European journal of human genetics : EJHG 2021 1 29 (4): 604-614. Borg Rebecca, Farrugia Wismayer Maia, Bonavia Karl, Farrugia Wismayer Andrew, Vella Malcolm, van Vugt Joke J F A, Kenna Brendan J, Kenna Kevin P, Vassallo Neville, Veldink Jan H, Cauchi Ruben |
Amyotrophic lateral sclerosis and cerebellum. Scientific reports 2022 Jul 12 (1): 12586. Kabiljo Renata, Iacoangeli Alfredo, Al-Chalabi Ammar, Rosenzweig Iva |
Genetic variability in sporadic amyotrophic lateral sclerosis. Brain : a journal of neurology 2023 4 . Van Daele Sien Hilde, Moisse Matthieu, van Vugt Joke J F A, Zwamborn Ramona A J, van der Spek Rick, van Rheenen Wouter, Van Eijk Kristel, Kenna Kevin, Corcia Philippe, Vourc'h Patrick, Couratier Philippe, Hardiman Orla, McLaughin Russell, Gotkine Marc, Drory Vivian, Ticozzi Nicola, Silani Vincenzo, Ratti Antonia, de Carvalho Mamede, Mora Pardina Jesús S, Povedano Monica, Andersen Peter M, Weber Markus, Ba?ak Nazli A, Shaw Chris, Shaw Pamela J, Morrison Karen E, Landers John E, Glass Jonathan D, van Es Michael, van den Berg Leonard H, Al-Chalabi Ammar, Veldink Jan, Van Damme Phil |
Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy. Cells 2024 4 13 (8): . Paola Ruffo, Francesca De Amicis, Vincenzo La Bella, Francesca Luisa Confor |
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