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

Year Number of Results
1995 2
1998 2
2000 1
2012 1
2014 1
2015 2
2016 1
2017 5
2018 3
2019 1
2020 5
2021 4
2022 2
2023 3
2024 1
2025 0

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30 results

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Page 1
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.
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.
Strafella C, Megalizzi D, Trastulli G, Proietti Piorgo E, Colantoni L, Tasca G, Monforte M, Zampatti S, Primiano G, Sancricca C, Bortolani S, Torchia E, Ravera B, Torri F, Gadaleta G, Risi B, Caria F, Gerardi F, Carraro E, Gioiosa V, Garibaldi M, Tufano L, Frezza E, Massa R, Caltagirone C, Pennisi EM, Petrucci A, Pane M, Frongia A, Gragnani F, Scutifero M, Mandich P, Grandis M, Maioli MA, Casali C, Manfroi E, Politano L, Passamano L, Petillo R, Rodolico C, Pugliese A, Previtali SC, Sansone V, Vercelli L, Mongini TE, Ricci G, Siciliano G, Filosto M, Ricci E, Cascella R, Giardina E; FSHD Italian Clinical Group. Strafella C, et al. Among authors: pennisi em. Clin Epigenetics. 2024 Oct 22;16(1):148. doi: 10.1186/s13148-024-01747-2. Clin Epigenetics. 2024. PMID: 39438900 Free PMC article.
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.
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
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: pennisi em. Genes (Basel). 2021 May 28;12(6):829. doi: 10.3390/genes12060829. Genes (Basel). 2021. PMID: 34071271 Free PMC article.
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, Berardinelli A, Bruno C, Bruno G, Comi GP, Donati MA, Dotti MT, Filosto M, Fiorillo C, Giannini F, Gigli GL, Grandis M, Lopergolo D, Magri F, Maioli MA, Malandrini A, Massa R, Matà S, Melani F, Messina S, Mignarri A, Moggio M, Pennisi EM, Pegoraro E, Ricci G, Sacchini M, Schenone A, Sampaolo S, Sciacco M, Siciliano G, Tasca G, Tonin P, Tupler R, Valente M, Volpi N, Cassandrini D, Santorelli FM. Dosi C, et al. Among authors: pennisi em. Genes (Basel). 2023 Jan 23;14(2):298. doi: 10.3390/genes14020298. Genes (Basel). 2023. PMID: 36833224 Free PMC 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
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.
30 results