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Page 1
Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function.
Moriggi M, Ruggiero L, Torretta E, Zoppi D, Arosio B, Ferri E, Castegna A, Fiorillo C, Gelfi C, Capitanio D. Moriggi M, et al. Among authors: ruggiero l. Antioxidants (Basel). 2024 Nov 16;13(11):1406. doi: 10.3390/antiox13111406. Antioxidants (Basel). 2024. PMID: 39594549 Free PMC article.
A rare mutation in MYH7 gene occurs with overlapping phenotype.
Ruggiero L, Fiorillo C, Gibertini S, De Stefano F, Manganelli F, Iodice R, Vitale F, Zanotti S, Galderisi M, Mora M, Santoro L. Ruggiero L, et al. Biochem Biophys Res Commun. 2015 Feb 13;457(3):262-6. doi: 10.1016/j.bbrc.2014.12.098. Epub 2015 Jan 7. Biochem Biophys Res Commun. 2015. PMID: 25576864
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry.
Nikolic A, Ricci G, Sera F, Bucci E, Govi M, Mele F, Rossi M, Ruggiero L, Vercelli L, Ravaglia S, Brisca G, Fiorillo C, Villa L, Maggi L, Cao M, D'Amico MC, Siciliano G, Antonini G, Santoro L, Mongini T, Moggio M, Morandi L, Pegoraro E, Angelini C, Di Muzio A, Rodolico C, Tomelleri G, Grazia D'Angelo M, Bruno C, Berardinelli A, Tupler R. Nikolic A, et al. Among authors: ruggiero l. BMJ Open. 2016 Jan 5;6(1):e007798. doi: 10.1136/bmjopen-2015-007798. BMJ Open. 2016. PMID: 26733561 Free PMC article.
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V. Savarese M, et al. Among authors: ruggiero l. JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899. JAMA Neurol. 2018. PMID: 29435569 Free PMC article.
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
Nikolic A, Jones TI, Govi M, Mele F, Maranda L, Sera F, Ricci G, Ruggiero L, Vercelli L, Portaro S, Villa L, Fiorillo C, Maggi L, Santoro L, Antonini G, Filosto M, Moggio M, Angelini C, Pegoraro E, Berardinelli A, Maioli MA, D'Angelo G, Di Muzio A, Siciliano G, Tomelleri G, D'Esposito M, Della Ragione F, Brancaccio A, Piras R, Rodolico C, Mongini T, Magdinier F, Salsi V, Jones PL, Tupler R. Nikolic A, et al. Among authors: ruggiero l. Int J Mol Sci. 2020 Apr 10;21(7):2635. doi: 10.3390/ijms21072635. Int J Mol Sci. 2020. PMID: 32290091 Free PMC article.
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.
Gemelli C, Traverso M, Trevisan L, Fabbri S, Scarsi E, Carlini B, Prada V, Mongini T, Ruggiero L, Patrone S, Gallone S, Iodice R, Pisciotta L, Zara F, Origone P, Rota E, Minetti C, Bruno C, Schenone A, Mandich P, Fiorillo C, Grandis M. Gemelli C, et al. Among authors: ruggiero l. Muscle Nerve. 2022 Jan;65(1):96-104. doi: 10.1002/mus.27448. Epub 2021 Nov 8. Muscle Nerve. 2022. PMID: 34687219 Free PMC article.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, D'Amico A, Sansone VA, Bruno C, Messina S, Mongini T, Coccia M, Siciliano G, Pegoraro E, Masson R, Filosto M, Comi GP, Corti S, Ronchi D, Maggi L, D'Angelo MG, Vacchiano V, Ticci C, Ruggiero L, Verriello L, Ricci FS, Berardinelli AL, Maioli MA, Garibaldi M, Nigro V, Previtali SC, Pera MC, Tizzano E, Pane M, Tiziano FD, Mercuri E; ITASMAC Working Group. Ricci M, et al. Among authors: ruggiero l. Ann Neurol. 2023 Dec;94(6):1126-1135. doi: 10.1002/ana.26788. Epub 2023 Sep 22. Ann Neurol. 2023. PMID: 37695206 Free article.
Pregnancy experience in women with spinal muscular atrophy: a case series.
Bencivenga RP, Zoppi D, Russo A, Cassano E, Tozza S, Iodice R, Dubbioso R, Manganelli F, Ruggiero L. Bencivenga RP, et al. Among authors: ruggiero l. Acta Myol. 2023 Sep 30;42(2-3):60-64. doi: 10.36185/2532-1900-316. eCollection 2023. Acta Myol. 2023. PMID: 38090543 Free PMC article.
273 results