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448 results

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Page 1
Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores.
Garibaldi M, Fattori F, Pennisi EM, Merlonghi G, Fionda L, Vanoli F, Leonardi L, Bucci E, Morino S, Micaloni A, Tartaglione T, Uijterwijk B, Zierikzee M, Ottenheijm C, Bertini ES, Stoppacciaro A, Raffa S, Salvetti M, Antonini G. Garibaldi M, et al. Among authors: leonardi l. Neuromuscul Disord. 2021 Feb;31(2):139-148. doi: 10.1016/j.nmd.2020.11.012. Epub 2020 Nov 30. Neuromuscul Disord. 2021. PMID: 33384202
Muscle involvement in myasthenia gravis: Expanding the clinical spectrum of Myasthenia-Myositis association from a large cohort of patients.
Garibaldi M, Fionda L, Vanoli F, Leonardi L, Loreti S, Bucci E, Di Pasquale A, Morino S, Vizzaccaro E, Merlonghi G, Ceccanti M, Lucchini M, Mirabella M, Andreetta F, Pennisi EM, Petrucci A, Salvetti M, Antonini G. Garibaldi M, et al. Among authors: leonardi l. Autoimmun Rev. 2020 Apr;19(4):102498. doi: 10.1016/j.autrev.2020.102498. Epub 2020 Feb 14. Autoimmun Rev. 2020. PMID: 32062029 Review.
Gender effect on cardiac involvement in myotonic dystrophy type 1.
Garibaldi M, Lauletta A, Bucci E, Fionda L, Vanoli F, Leonardi L, Alfieri G, Tufano L, Morino S, Merlonghi G, Anibaldi P, Salvetti M, Testa M, Antonini G. Garibaldi M, et al. Among authors: leonardi l. Eur J Neurol. 2021 Apr;28(4):1366-1374. doi: 10.1111/ene.14665. Epub 2020 Dec 25. Eur J Neurol. 2021. PMID: 33283405
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy.
Magliano L, Obici L, Sforzini C, Mazzeo A, Russo M, Cappelli F, Fenu S, Luigetti M, Tagliapietra M, Gemelli C, Leonardi L, Tozza S, Pradotto LG, Citarelli G, Mauro A, Manganelli F, Antonini G, Grandis M, Fabrizi GM, Sabatelli M, Pareyson D, Perfetto F, Merlini G, Vita G; ATTRv Collaborators. Magliano L, et al. Among authors: leonardi l. Orphanet J Rare Dis. 2021 Apr 7;16(1):163. doi: 10.1186/s13023-021-01812-6. Orphanet J Rare Dis. 2021. PMID: 33827635 Free PMC article.
ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country.
Luigetti M, Guglielmino V, Antonini G, Casali C, Ceccanti M, Chiappini MG, De Giglio L, Di Lazzaro V, Di Muzio A, Goglia M, Inghilleri M, Leonardi L, Massa R, Pennisi EM, Petrucci A, Proietti E, Rispoli M, Sabatelli M, Di Girolamo M. Luigetti M, et al. Among authors: leonardi l. Genes (Basel). 2021 May 28;12(6):829. doi: 10.3390/genes12060829. Genes (Basel). 2021. PMID: 34071271 Free PMC article.
Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial.
Howard JF Jr, Bril V, Vu T, Karam C, Peric S, Margania T, Murai H, Bilinska M, Shakarishvili R, Smilowski M, Guglietta A, Ulrichts P, Vangeneugden T, Utsugisawa K, Verschuuren J, Mantegazza R; ADAPT Investigator Study Group. Howard JF Jr, et al. Lancet Neurol. 2021 Jul;20(7):526-536. doi: 10.1016/S1474-4422(21)00159-9. Lancet Neurol. 2021. PMID: 34146511 Clinical Trial.
Skin biopsy and quantitative sensory assessment in an Italian cohort of ATTRv patients with polyneuropathy and asymptomatic carriers: possible evidence of early non-length dependent denervation.
Leonardi L, Galosi E, Vanoli F, Fasolino A, Di Pietro G, Luigetti M, Sabatelli M, Fionda L, Garibaldi M, Alfieri G, Lauletta A, Morino S, Salvetti M, Truini A, Antonini G. Leonardi L, et al. Neurol Sci. 2022 Feb;43(2):1359-1364. doi: 10.1007/s10072-021-05434-5. Epub 2021 Jun 29. Neurol Sci. 2022. PMID: 34189665
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials.
Garibaldi M, Nicoletti T, Bucci E, Fionda L, Leonardi L, Morino S, Tufano L, Alfieri G, Lauletta A, Merlonghi G, Perna A, Rossi S, Ricci E, Alonso Perez J, Tartaglione T, Petrucci A, Pennisi EM, Salvetti M, Cutter G, Díaz-Manera J, Silvestri G, Antonini G. Garibaldi M, et al. Among authors: leonardi l. Eur J Neurol. 2022 Mar;29(3):843-854. doi: 10.1111/ene.15174. Epub 2021 Dec 6. Eur J Neurol. 2022. PMID: 34753219 Free PMC article.
448 results