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1977 1
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30 results

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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.
Alpha-thalassemia in premature newborns.
Maccioni L, Galanello R, Ruggeri R, Puddu R, Rosatelli D, Marras A, Chiappe S, Macciotta A, Cao A. Maccioni L, et al. Among authors: puddu r. Pediatr Res. 1986 Nov;20(11):1077-81. doi: 10.1203/00006450-198611000-00003. Pediatr Res. 1986. PMID: 3797101
Morphological Neural Computation Restores Discrimination of Naturalistic Textures in Trans-radial Amputees.
Mazzoni A, Oddo CM, Valle G, Camboni D, Strauss I, Barbaro M, Barabino G, Puddu R, Carboni C, Bisoni L, Carpaneto J, Vecchio F, Petrini FM, Romeni S, Czimmermann T, Massari L, di Iorio R, Miraglia F, Granata G, Pani D, Stieglitz T, Raffo L, Rossini PM, Micera S. Mazzoni A, et al. Among authors: puddu r. Sci Rep. 2020 Jan 16;10(1):527. doi: 10.1038/s41598-020-57454-4. Sci Rep. 2020. PMID: 31949245 Free PMC article.
The Simons Observatory: modeling optical systematics in the Large Aperture Telescope.
Gudmundsson JE, Gallardo PA, Puddu R, Dicker SR, Adler AE, Ali AM, Bazarko A, Chesmore GE, Coppi G, Cothard NF, Dachlythra N, Devlin M, Dünner R, Fabbian G, Galitzki N, Golec JE, Patty Ho SP, Hargrave PC, Kofman AM, Lee AT, Limon M, Matsuda FT, Mauskopf PD, Moodley K, Nati F, Niemack MD, Orlowski-Scherer J, Page LA, Partridge B, Puglisi G, Reichardt CL, Sierra CE, Simon SM, Teply GP, Tucker C, Wollack EJ, Xu Z, Zhu N. Gudmundsson JE, et al. Among authors: puddu r. Appl Opt. 2021 Feb 1;60(4):823-837. doi: 10.1364/AO.411533. Appl Opt. 2021. PMID: 33690389
Author Correction: Morphological Neural Computation Restores Discrimination of Naturalistic Textures in Trans-radial Amputees.
Mazzoni A, Oddo CM, Valle G, Camboni D, Strauss I, Barbaro M, Barabino G, Puddu R, Carboni C, Bisoni L, Carpaneto J, Vecchio F, Petrini FM, Romeni S, Czimmermann T, Massari L, di Iorio R, Miraglia F, Granata G, Pani D, Stieglitz T, Raffo L, Rossini PM, Micera S. Mazzoni A, et al. Among authors: puddu r. Sci Rep. 2021 Aug 11;11(1):16662. doi: 10.1038/s41598-021-96290-y. Sci Rep. 2021. PMID: 34381145 Free PMC article. No abstract available.
HFE p.H63D polymorphism does not influence ALS phenotype and survival.
Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor BJ, Johnson JO, Nalls MA, Calvo A, Moglia C, Borghero G, Monsurrò MR, La Bella V, Volanti P, Simone I, Salvi F, Logullo FO, Nilo R, Giannini F, Mandrioli J, Tanel R, Murru MR, Mandich P, Zollino M, Conforti FL, Penco S; ITALSGEN consortium; SARDINIALS consortium; Brunetti M, Barberis M, Restagno G. Chiò A, et al. Neurobiol Aging. 2015 Oct;36(10):2906.e7-11. doi: 10.1016/j.neurobiolaging.2015.06.016. Epub 2015 Jun 18. Neurobiol Aging. 2015. PMID: 26174855 Free PMC article.
Amyotrophic lateral sclerosis in Sardinia, insular Italy, 1995-2009.
Pugliatti M, Parish LD, Cossu P, Leoni S, Ticca A, Saddi MV, Ortu E, Traccis S, Borghero G, Puddu R, Chiò A, Pirina P. Pugliatti M, et al. Among authors: puddu r. J Neurol. 2013 Feb;260(2):572-9. doi: 10.1007/s00415-012-6681-5. Epub 2012 Sep 30. J Neurol. 2013. PMID: 23052600
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.
Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Renton AE, Nalls MA, Traynor BJ, Restagno G, Chiò A; ITALSGEN and SARDINALS consortia. Borghero G, et al. Neurobiol Aging. 2015 Oct;36(10):2906.e1-5. doi: 10.1016/j.neurobiolaging.2015.06.013. Epub 2015 Jun 25. Neurobiol Aging. 2015. PMID: 26208502 Free PMC article.
Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.
Floris G, Borghero G, Di Stefano F, Melis R, Puddu R, Fadda L, Murru MR, Corongiu D, Cuccu S, Tranquilli S, Cannas A, Marrosu MG, Chiò A, Marrosu F. Floris G, et al. Among authors: puddu r. Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):245-8. doi: 10.3109/21678421.2015.1111904. Epub 2015 Nov 17. Amyotroph Lateral Scler Frontotemporal Degener. 2016. PMID: 26575405
30 results