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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 5
2008 4
2009 7
2010 8
2011 4
2012 5
2013 1
2014 2
2015 1
2016 2
2017 1
2018 1
2019 1
2020 7
2021 6
2022 1
2024 0

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52 results

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Page 1
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 JH, van … See abstract for full author list ➔ Johnson JO, et al. Among authors: bartolomei i. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Cardiac amyloidosis: the great pretender.
Rapezzi C, Lorenzini M, Longhi S, Milandri A, Gagliardi C, Bartolomei I, Salvi F, Maurer MS. Rapezzi C, et al. Among authors: bartolomei i. Heart Fail Rev. 2015 Mar;20(2):117-24. doi: 10.1007/s10741-015-9480-0. Heart Fail Rev. 2015. PMID: 25758359 Review.
Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.
Bartoletti-Stella A, De Pasqua S, Baiardi S, Bartolomei I, Mengozzi G, Orio G, Pastorelli F, Piras S, Poda R, Raggi A, Maserati MS, Tarozzi M, Liguori R, Salvi F, Parchi P, Capellari S. Bartoletti-Stella A, et al. Among authors: bartolomei i. Neurobiol Aging. 2021 Jan;97:145.e7-145.e15. doi: 10.1016/j.neurobiolaging.2020.05.004. Epub 2020 May 13. Neurobiol Aging. 2021. PMID: 32507413
Wnt3a but not CDX-2 expression is associated with differentiated thyroid cancer.
Biagini GLK, Ribas CAPM, Higashi HD, Hirata VY, Zella MAK, Bartolomei I, Biagini G, Collaço LM. Biagini GLK, et al. Among authors: bartolomei i. Rev Assoc Med Bras (1992). 2022 Mar;68(3):400-404. doi: 10.1590/1806-9282.20211132. Rev Assoc Med Bras (1992). 2022. PMID: 35442371 Free article.
The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.
Vacchiano V, Caporali L, La Morgia C, Carbonelli M, Amore G, Bartolomei I, Cascavilla ML, Barboni P, Lamperti C, Catania A, Chan JW, Karanja R, Sadun AA, Liguori R, Bianchi A, Gavazzi G, Mascalchi M, Salvi F, Carelli V. Vacchiano V, et al. Among authors: bartolomei i. Mitochondrion. 2021 Sep;60:142-149. doi: 10.1016/j.mito.2021.08.007. Epub 2021 Aug 11. Mitochondrion. 2021. PMID: 34390870
ATTRv amyloidosis Italian Registry: clinical and epidemiological data.
Russo M, Obici L, Bartolomei I, Cappelli F, Luigetti M, Fenu S, Cavallaro T, Chiappini MG, Gemelli C, Pradotto LG, Manganelli F, Leonardi L, My F, Sampaolo S, Briani C, Gentile L, Stancanelli C, Di Buduo E, Pacciolla P, Salvi F, Casagrande S, Bisogni G, Calabrese D, Vanoli F, Di Iorio G, Antonini G, Santoro L, Mauro A, Grandis M, Di Girolamo M, Fabrizi GM, Pareyson D, Sabatelli M, Perfetto F, Rapezzi C, Merlini G, Mazzeo A, Vita G. Russo M, et al. Among authors: bartolomei i. Amyloid. 2020 Dec;27(4):259-265. doi: 10.1080/13506129.2020.1794807. Epub 2020 Jul 22. Amyloid. 2020. PMID: 32696671
Prognostic value of EMG genioglossus involvement in amyotrophic lateral sclerosis.
Vacchiano V, Di Stasi V, Rizzo G, Giannoccaro MP, Donadio V, Bartolomei I, Capellari S, Salvi F, Avoni P, Liguori R. Vacchiano V, et al. Among authors: bartolomei i. Clin Neurophysiol. 2021 Oct;132(10):2416-2421. doi: 10.1016/j.clinph.2021.07.011. Epub 2021 Jul 24. Clin Neurophysiol. 2021. PMID: 34454268
FUS mutations in sporadic amyotrophic lateral sclerosis.
Lai SL, Abramzon Y, Schymick JC, Stephan DA, Dunckley T, Dillman A, Cookson M, Calvo A, Battistini S, Giannini F, Caponnetto C, Mancardi GL, Spataro R, Monsurro MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Lombardo F; ITALSGEN Consortium; Mora G, Restagno G, Chiò A, Traynor BJ. Lai SL, et al. Among authors: bartolomei i. Neurobiol Aging. 2011 Mar;32(3):550.e1-4. doi: 10.1016/j.neurobiolaging.2009.12.020. Epub 2010 Feb 6. Neurobiol Aging. 2011. PMID: 20138404 Free PMC article.
52 results