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Year Number of Results
2003 1
2006 1
2007 1
2008 1
2009 1
2010 1
2011 1
2012 4
2013 1
2014 2
2016 2
2017 4
2019 3
2020 1
2021 2
2022 1
2023 1
2024 2

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29 results

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Page 1
ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.
Baron DM, Fenton AR, Saez-Atienzar S, Giampetruzzi A, Sreeram A, Shankaracharya, Keagle PJ, Doocy VR, Smith NJ, Danielson EW, Andresano M, McCormack MC, Garcia J, Bercier V, Van Den Bosch L, Brent JR, Fallini C, Traynor BJ, Holzbaur ELF, Landers JE. Baron DM, et al. Among authors: fallini c. Cell Rep. 2022 Apr 5;39(1):110598. doi: 10.1016/j.celrep.2022.110598. Cell Rep. 2022. PMID: 35385738 Free PMC article.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink J… See abstract for full author list ➔ Johnson JO, et al. Among authors: fallini c. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia.
Mol MO, Wong TH, Melhem S, Basu S, Viscusi R, Galjart N, Rozemuller AJM, Fallini C, Landers JE, Kaat LD, Seelaar H, van Rooij JGJ, van Swieten JC. Mol MO, et al. Among authors: fallini c. Neurol Genet. 2021 May 18;7(3):e596. doi: 10.1212/NXG.0000000000000596. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 34169147 Free PMC article.
LSD1/KDM1A is essential for neural stem cell differentiation in mice.
Falkenberry EC, Reeves M, Scott A, Myrick DA, Fallini C, Bassell GJ, Katz DJ. Falkenberry EC, et al. Among authors: fallini c. bioRxiv [Preprint]. 2023 Dec 3:2023.12.02.569711. doi: 10.1101/2023.12.02.569711. bioRxiv. 2023. PMID: 38076951 Free PMC article. Preprint.
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN Consortium; Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE. Kenna KP, et al. Among authors: fallini c. Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455347 Free PMC article.
29 results