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Year Number of Results
2008 1
2009 8
2010 14
2011 16
2012 27
2013 25
2014 20
2015 15
2016 7
2017 9
2018 14
2019 13
2020 23
2021 26
2022 28
2023 22
2024 10

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225 results

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Page 1
Hereditary transthyretin amyloidosis overview.
Manganelli F, Fabrizi GM, Luigetti M, Mandich P, Mazzeo A, Pareyson D. Manganelli F, et al. Among authors: luigetti m. Neurol Sci. 2022 Dec;43(Suppl 2):595-604. doi: 10.1007/s10072-020-04889-2. Epub 2020 Nov 14. Neurol Sci. 2022. PMID: 33188616 Free PMC article. Review.
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group. Finkel RS, et al. N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752. N Engl J Med. 2017. PMID: 29091570 Free article. Clinical Trial.
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.
Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.
Coelho T, Marques W Jr, Dasgupta NR, Chao CC, Parman Y, França MC Jr, Guo YC, Wixner J, Ro LS, Calandra CR, Kowacs PA, Berk JL, Obici L, Barroso FA, Weiler M, Conceição I, Jung SW, Buchele G, Brambatti M, Chen J, Hughes SG, Schneider E, Viney NJ, Masri A, Gertz MR, Ando Y, Gillmore JD, Khella S, Dyck PJB, Waddington Cruz M; NEURO-TTRansform Investigators. Coelho T, et al. JAMA. 2023 Oct 17;330(15):1448-1458. doi: 10.1001/jama.2023.18688. JAMA. 2023. PMID: 37768671 Free PMC article.
Weber Syndrome.
Romozzi M, Bramato G, Luigetti M. Romozzi M, et al. Among authors: luigetti m. Acta Neurol Belg. 2023 Jun;123(3):1101-1103. doi: 10.1007/s13760-021-01861-5. Epub 2022 Jan 7. Acta Neurol Belg. 2023. PMID: 34997560 No abstract available.
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium; Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. Renton AE, et al. Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21. Neuron. 2011. PMID: 21944779 Free PMC article.
Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database.
Doneddu PE, Cocito D, Manganelli F, Fazio R, Briani C, Filosto M, Benedetti L, Mazzeo A, Marfia GA, Cortese A, Fierro B, Jann S, Beghi E, Clerici AM, Carpo M, Schenone A, Luigetti M, Lauria G, Antonini G, Rosso T, Siciliano G, Cavaletti G, Liberatore G, Santoro L, Peci E, Tronci S, Ruiz M, Cotti Piccinelli S, Toscano A, Mataluni G, Piccolo L, Cosentino G, Sabatelli M, Nobile-Orazio E; Italian CIDP Database study group. Doneddu PE, et al. Among authors: luigetti m. J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):125-132. doi: 10.1136/jnnp-2018-318714. Epub 2018 Oct 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30297520 Free article.
Nine syndrome.
Giuffrè GM, Iorio R, Masi G, Frisullo G, Luigetti M. Giuffrè GM, et al. Among authors: luigetti m. Acta Neurol Belg. 2019 Sep;119(3):475-476. doi: 10.1007/s13760-019-01151-1. Epub 2019 May 17. Acta Neurol Belg. 2019. PMID: 31102181 No abstract available.
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study.
Adams D, Polydefkis M, González-Duarte A, Wixner J, Kristen AV, Schmidt HH, Berk JL, Losada López IA, Dispenzieri A, Quan D, Conceição IM, Slama MS, Gillmore JD, Kyriakides T, Ajroud-Driss S, Waddington-Cruz M, Mezei MM, Planté-Bordeneuve V, Attarian S, Mauricio E, Brannagan TH 3rd, Ueda M, Aldinc E, Wang JJ, White MT, Vest J, Berber E, Sweetser MT, Coelho T; patisiran Global OLE study group. Adams D, et al. Lancet Neurol. 2021 Jan;20(1):49-59. doi: 10.1016/S1474-4422(20)30368-9. Epub 2020 Nov 16. Lancet Neurol. 2021. PMID: 33212063 Clinical Trial.
Ocular Involvement in Hereditary Amyloidosis.
Minnella AM, Rissotto R, Antoniazzi E, Di Girolamo M, Luigetti M, Maceroni M, Bacherini D, Falsini B, Rizzo S, Obici L. Minnella AM, et al. Among authors: luigetti m. Genes (Basel). 2021 Jun 22;12(7):955. doi: 10.3390/genes12070955. Genes (Basel). 2021. PMID: 34206500 Free PMC article. Review.
225 results