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Page 1
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, Laaks… See abstract for full author list ➔ Nicolas A, et al. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
An ALS case with a novel D90N-SOD1 heterozygous missense mutation.
Calvo A, Ilardi A, Moglia C, Canosa A, Carrara G, Valentini C, Ossola I, Brunetti M, Restagno G, Chiò A. Calvo A, et al. Amyotroph Lateral Scler. 2012 Jun;13(4):393-5. doi: 10.3109/17482968.2012.673170. Amyotroph Lateral Scler. 2012. PMID: 22632444
TBK1 is associated with ALS and ALS-FTD in Sardinian patients.
Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Gibbs JR, Renton AE, Errichiello E, Zoledziewska M, Mulas A, Qian Y, Din J, Pliner HA, Traynor BJ, Chiò A; ITALSGEN and SARDINALS Consortia. Borghero G, et al. Neurobiol Aging. 2016 Jul;43:180.e1-5. doi: 10.1016/j.neurobiolaging.2016.03.028. Epub 2016 Apr 9. Neurobiol Aging. 2016. PMID: 27156075 Free PMC article.
ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.
Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Canosa A, Moglia C, Floris G, Tacconi P, Marrosu F, Marrosu MG, Murru MR, Majounie E, Renton AE, Abramzon Y, Pugliatti M, Sotgiu MA, Traynor BJ, Borghero G; SARDINIALS Consortium. Chiò A, et al. J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):730-3. doi: 10.1136/jnnp-2012-302219. Epub 2012 May 1. J Neurol Neurosurg Psychiatry. 2012. PMID: 22550220 Free PMC article.
Amyotrophic lateral sclerosis outcome measures and the role of albumin and creatinine: a population-based study.
Chiò A, Calvo A, Bovio G, Canosa A, Bertuzzo D, Galmozzi F, Cugnasco P, Clerico M, De Mercanti S, Bersano E, Cammarosano S, Ilardi A, Manera U, Moglia C, Sideri R, Marinou K, Bottacchi E, Pisano F, Cantello R, Mazzini L, Mora G; Piemonte and Valle d’Aosta Register for Amyotrophic Lateral Sclerosis. Chiò A, et al. JAMA Neurol. 2014 Sep;71(9):1134-42. doi: 10.1001/jamaneurol.2014.1129. JAMA Neurol. 2014. PMID: 25048026 Free article.
Amyotrophic lateral sclerosis onset after prolonged treatment with a VEGF receptors inhibitor.
Canosa A, Calvo A, Barberis M, Brunetti M, Restagno G, Cammarosano S, Ilardi A, Vigliani MC, Chiò A, Moglia C. Canosa A, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2015 Mar;16(1-2):129-30. doi: 10.3109/21678421.2014.969274. Epub 2014 Oct 22. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 25336094 No abstract available.
28 results