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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P… See abstract for full author list ➔ Nicolas A, et al. Among authors: soraru g. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.
Corrado L, Del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, Sorarù G, Carlomagno Y, Ghezzi S, Pensato V, Colombrita C, Gagliardi S, Cozzi L, Orsetti V, Mancuso M, Siciliano G, Mazzini L, Comi GP, Gellera C, Ceroni M, D'Alfonso S, Silani V. Corrado L, et al. Among authors: soraru g. J Med Genet. 2010 Mar;47(3):190-4. doi: 10.1136/jmg.2009.071027. Epub 2009 Oct 26. J Med Genet. 2010. PMID: 19861302
Natural history of upper motor neuron-dominant ALS.
Sorarù G, Ermani M, Logroscino G, Palmieri A, D' Ascenzo C, Orsetti V, Volpe M, Cima V, Zara G, Pegoraro E, Angelini C. Sorarù G, et al. Amyotroph Lateral Scler. 2010 Oct;11(5):424-9. doi: 10.3109/17482960903300867. Amyotroph Lateral Scler. 2010. PMID: 19929748
Parkinson-like features in ALS with predominant upper motor neuron involvement.
D'Ascenzo C, Cecchin D, Santelli L, Palmieri A, Gaiani A, Querin G, Cima V, Volpe M, Bello L, Bui F, Cagnin A, Angelini C, Pegoraro E, Sorarù G. D'Ascenzo C, et al. Among authors: soraru g. Amyotroph Lateral Scler. 2012 Jan;13(1):137-43. doi: 10.3109/17482968.2011.603732. Epub 2011 Aug 28. Amyotroph Lateral Scler. 2012. PMID: 21870999
Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.
Tiloca C, Ratti A, Pensato V, Castucci A, Sorarù G, Del Bo R, Corrado L, Cereda C, D'Ascenzo C, Comi GP, Mazzini L, Castellotti B, Ticozzi N, Gellera C, Silani V; SLAGEN Consortium. Tiloca C, et al. Among authors: soraru g. Neurobiol Aging. 2012 Mar;33(3):630.e1-2. doi: 10.1016/j.neurobiolaging.2011.10.025. Epub 2011 Dec 3. Neurobiol Aging. 2012. PMID: 22137929
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect.
Ratti A, Corrado L, Castellotti B, Del Bo R, Fogh I, Cereda C, Tiloca C, D'Ascenzo C, Bagarotti A, Pensato V, Ranieri M, Gagliardi S, Calini D, Mazzini L, Taroni F, Corti S, Ceroni M, Oggioni GD, Lin K, Powell JF, Sorarù G, Ticozzi N, Comi GP, D'Alfonso S, Gellera C, Silani V; SLAGEN Consortium. Ratti A, et al. Among authors: soraru g. Neurobiol Aging. 2012 Oct;33(10):2528.e7-14. doi: 10.1016/j.neurobiolaging.2012.06.008. Epub 2012 Jul 4. Neurobiol Aging. 2012. PMID: 22766072
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia.
Tiloca C, Ticozzi N, Pensato V, Corrado L, Del Bo R, Bertolin C, Fenoglio C, Gagliardi S, Calini D, Lauria G, Castellotti B, Bagarotti A, Corti S, Galimberti D, Cagnin A, Gabelli C, Ranieri M, Ceroni M, Siciliano G, Mazzini L, Cereda C, Scarpini E, Sorarù G, Comi GP, D'Alfonso S, Gellera C, Ratti A, Landers JE, Silani V; SLAGEN Consortium. Tiloca C, et al. Among authors: soraru g. Neurobiol Aging. 2013 May;34(5):1517.e9-10. doi: 10.1016/j.neurobiolaging.2012.09.016. Epub 2012 Oct 11. Neurobiol Aging. 2013. PMID: 23063648 Free PMC article.
Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia.
Gellera C, Tiloca C, Del Bo R, Corrado L, Pensato V, Agostini J, Cereda C, Ratti A, Castellotti B, Corti S, Bagarotti A, Cagnin A, Milani P, Gabelli C, Riboldi G, Mazzini L, Sorarù G, D'Alfonso S, Taroni F, Comi GP, Ticozzi N, Silani V; SLAGEN Consortium. Gellera C, et al. Among authors: soraru g. J Neurol Neurosurg Psychiatry. 2013 Feb;84(2):183-7. doi: 10.1136/jnnp-2012-303433. Epub 2012 Nov 8. J Neurol Neurosurg Psychiatry. 2013. PMID: 23138764
171 results