NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
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Published:2016-07-25
Issue:9
Volume:48
Page:1037-1042
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Kenna Kevin P, , van Doormaal Perry T C, Dekker Annelot M, Ticozzi Nicola, Kenna Brendan J, Diekstra Frank P, van Rheenen Wouter, van Eijk Kristel R, Jones Ashley R, Keagle Pamela, Shatunov Aleksey, Sproviero WilliamORCID, Smith Bradley N, van Es Michael A, Topp Simon DORCID, Kenna Aoife, Miller Jack W, Fallini Claudia, Tiloca Cinzia, McLaughlin Russell L, Vance Caroline, Troakes Claire, Colombrita Claudia, Mora Gabriele, Calvo AndreaORCID, Verde Federico, Al-Sarraj Safa, King Andrew, Calini Daniela, de Belleroche Jacqueline, Baas FrankORCID, van der Kooi Anneke J, de Visser Marianne, ten Asbroek Anneloor L M A, Sapp Peter C, McKenna-Yasek Diane, Polak Meraida, Asress Seneshaw, Muñoz-Blanco José Luis, Strom Tim M, Meitinger Thomas, Morrison Karen E, Lauria Giuseppe, Williams Kelly LORCID, Leigh P Nigel, Nicholson Garth A, Blair Ian P, Leblond Claire S, Dion Patrick A, Rouleau Guy A, Pall Hardev, Shaw Pamela J, Turner Martin RORCID, Talbot KevinORCID, Taroni FrancoORCID, Boylan Kevin B, Van Blitterswijk Marka, Rademakers Rosa, Esteban-Pérez Jesús, García-Redondo Alberto, Van Damme Phillip, Robberecht Wim, Chio Adriano, Gellera Cinzia, Drepper CarstenORCID, Sendtner Michael, Ratti Antonia, Glass Jonathan D, Mora Jesús S, Basak Nazli A, Hardiman Orla, Ludolph Albert C, Andersen Peter M, Weishaupt Jochen H, Brown Robert H, Al-Chalabi Ammar, Silani Vincenzo, Shaw Christopher E, van den Berg Leonard H, Veldink Jan H, Landers John E
Publisher
Springer Science and Business Media LLC
Reference52 articles.
1. Gilissen, C., Hoischen, A., Brunner, H.G. & Veltman, J.A. Unlocking Mendelian disease using exome sequencing. Genome Biol. 12, 228 (2011). 2. Ng, S.B. et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat. Genet. 42, 790–793 (2010). 3. Smith, B.N. et al. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Neuron 84, 324–331 (2014). 4. Jian, X., Boerwinkle, E. & Liu, X. In silico prediction of splice-altering single nucleotide variants in the human genome. Nucleic Acids Res. 42, 13534–13544 (2014). 5. Shihab, H.A. et al. Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum. Mutat. 34, 57–65 (2013).
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