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903 results

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Page 1
Expanding the spectrum of genes responsible for hereditary motor neuropathies.
Previtali SC, Zhao E, Lazarevic D, Pipitone GB, Fabrizi GM, Manganelli F, Mazzeo A, Pareyson D, Schenone A, Taroni F, Vita G, Bellone E, Ferrarini M, Garibaldi M, Magri S, Padua L, Pennisi E, Pisciotta C, Riva N, Scaioli V, Scarlato M, Tozza S, Geroldi A, Jordanova A, Ferrari M, Molineris I, Reilly MM, Comi G, Carrera P, Devoto M, Bolino A. Previtali SC, et al. Among authors: pennisi e. J Neurol Neurosurg Psychiatry. 2019 Oct;90(10):1171-1179. doi: 10.1136/jnnp-2019-320717. Epub 2019 Jun 5. J Neurol Neurosurg Psychiatry. 2019. PMID: 31167812 Free article.
Dropped-head in recessive oculopharyngeal muscular dystrophy.
Garibaldi M, Pennisi EM, Bruttini M, Bizzarri V, Bucci E, Morino S, Talerico C, Stoppacciaro A, Renieri A, Antonini G. Garibaldi M, et al. Among authors: pennisi em. Neuromuscul Disord. 2015 Nov;25(11):869-72. doi: 10.1016/j.nmd.2015.08.011. Epub 2015 Sep 7. Neuromuscul Disord. 2015. PMID: 26494409
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.
Pennisi EM, Arca M, Bertini E, Bruno C, Cassandrini D, D'amico A, Garibaldi M, Gragnani F, Maggi L, Massa R, Missaglia S, Morandi L, Musumeci O, Pegoraro E, Rastelli E, Santorelli FM, Tasca E, Tavian D, Toscano A, Angelini C; Italian NLSD Group. Pennisi EM, et al. Orphanet J Rare Dis. 2017 May 12;12(1):90. doi: 10.1186/s13023-017-0646-9. Orphanet J Rare Dis. 2017. PMID: 28499397 Free PMC article.
Muscle MRI in neutral lipid storage disease (NLSD).
Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM. Garibaldi M, et al. Among authors: pennisi em. J Neurol. 2017 Jul;264(7):1334-1342. doi: 10.1007/s00415-017-8498-8. Epub 2017 May 13. J Neurol. 2017. PMID: 28503705 Free PMC article.
Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).
Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM. Garibaldi M, et al. Among authors: pennisi em. J Neurol. 2017 Jul;264(7):1343-1344. doi: 10.1007/s00415-017-8528-6. J Neurol. 2017. PMID: 28608302 Free PMC article. No abstract available.
Lipid Myopathies.
Pennisi EM, Garibaldi M, Antonini G. Pennisi EM, et al. J Clin Med. 2018 Nov 23;7(12):472. doi: 10.3390/jcm7120472. J Clin Med. 2018. PMID: 30477112 Free PMC article. Review.
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: pennisi em. Autoimmun Rev. 2020 Apr;19(4):102498. doi: 10.1016/j.autrev.2020.102498. Epub 2020 Feb 14. Autoimmun Rev. 2020. PMID: 32062029 Review.
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.
Mauri E, Abati E, Musumeci O, Rodolico C, D'Angelo MG, Mirabella M, Lucchini M, Bello L, Pegoraro E, Maggi L, Manneschi L, Gemelli C, Grandis M, Zuppa A, Massucco S, Benedetti L, Caponnetto C, Schenone A, Prelle A, Previtali SC, Scarlato M, D'Amico A, Bertini E, Pennisi EM, De Giglio L, Pane M, Mercuri E, Mongini T, Ricci F, Berardinelli A, Astrea G, Lenzi S, Battini R, Ricci G, Torri F, Siciliano G, Santorelli FM, Ariatti A, Filosto M, Passamano L, Politano L, Scutifero M, Tonin P, Fossati B, Panicucci C, Bruno C, Ravaglia S, Monforte M, Tasca G, Ricci E, Petrucci A, Santoro L, Ruggiero L, Barp A, Albamonte E, Sansone V, Gagliardi D, Costamagna G, Govoni A, Magri F, Brusa R, Velardo D, Meneri M, Sciacco M, Corti S, Bresolin N, Moroni I, Messina S, Di Muzio A, Nigro V, Liguori R, Antonini G, Toscano A, Minetti C, Comi GP; Italian Association of Myology. Mauri E, et al. Among authors: pennisi em. Acta Myol. 2020 Jun 1;39(2):57-66. doi: 10.36185/2532-1900-008. eCollection 2020 Jun. Acta Myol. 2020. PMID: 32904925 Free PMC article.
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: pennisi em. 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
903 results