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Page 1
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. Int J Mol Sci. 2020 Apr 10;21(7):2635. doi: 10.3390/ijms21072635. Int J Mol Sci. 2020. PMID: 32290091 Free PMC article.
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.
Ricci G, Ruggiero L, Vercelli L, Sera F, Nikolic A, Govi M, Mele F, Daolio J, Angelini C, Antonini G, Berardinelli A, Bucci E, Cao M, D'Amico MC, D'Angelo G, Di Muzio A, Filosto M, Maggi L, Moggio M, Mongini T, Morandi L, Pegoraro E, Rodolico C, Santoro L, Siciliano G, Tomelleri G, Villa L, Tupler R. Ricci G, et al. J Neurol. 2016 Jun;263(6):1204-14. doi: 10.1007/s00415-016-8123-2. Epub 2016 Apr 28. J Neurol. 2016. PMID: 27126453 Free PMC article.
Genetic modifiers of upper limb function in Duchenne muscular dystrophy.
Sabbatini D, Fusto A, Vianello S, Villa M, Janik J, D'Angelo G, Diella E, Magri F, Comi GP, Panicucci C, Bruno C, D'Amico A, Bertini E, Astrea G, Battini R, Politano L, Masson R, Baranello G, Previtali SC, Messina S, Vita G, Berardinelli A, Mongini T, Pini A, Pane M, Mercuri E, Hoffman EP, Morgenroth L, Gordish-Dressman H, Duong T, McDonald CM, Bello L, Pegoraro E. Sabbatini D, et al. J Neurol. 2022 Sep;269(9):4884-4894. doi: 10.1007/s00415-022-11133-8. Epub 2022 May 5. J Neurol. 2022. PMID: 35513612 Free PMC article.
Genetic modifiers of respiratory function in Duchenne muscular dystrophy.
Bello L, D'Angelo G, Villa M, Fusto A, Vianello S, Merlo B, Sabbatini D, Barp A, Gandossini S, Magri F, Comi GP, Pedemonte M, Tacchetti P, Lanzillotta V, Trucco F, D'Amico A, Bertini E, Astrea G, Politano L, Masson R, Baranello G, Albamonte E, De Mattia E, Rao F, Sansone VA, Previtali S, Messina S, Vita GL, Berardinelli A, Mongini T, Pini A, Pane M, Mercuri E, Vianello A, Bruno C, Hoffman EP, Morgenroth L, Gordish-Dressman H, McDonald CM; CINRG-DNHS Investigators; Pegoraro E. Bello L, et al. Ann Clin Transl Neurol. 2020 May;7(5):786-798. doi: 10.1002/acn3.51046. Epub 2020 Apr 28. Ann Clin Transl Neurol. 2020. PMID: 32343055 Free PMC article.
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.
Coratti G, Lenkowicz J, Norcia G, Lucibello S, Ferraroli E, d'Amico A, Bello L, Pegoraro E, Messina S, Ricci F, Mongini T, Berardinelli A, Masson R, Previtali SC, D'angelo G, Magri F, Comi GP, Politano L, Passamano L, Vita G, Sansone VA, Albamonte E, Panicucci C, Bruno C, Pini A, Bertini E, Patarnello S, Pane M, Mercuri E; italian DMD study group. Coratti G, et al. PLoS One. 2022 Jul 29;17(7):e0271681. doi: 10.1371/journal.pone.0271681. eCollection 2022. PLoS One. 2022. PMID: 35905042 Free PMC article.
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.
Pane M, Mazzone ES, Fanelli L, De Sanctis R, Bianco F, Sivo S, D'Amico A, Messina S, Battini R, Scutifero M, Petillo R, Frosini S, Scalise R, Vita G, Bruno C, Pedemonte M, Mongini T, Pegoraro E, Brustia F, Gardani A, Berardinelli A, Lanzillotta V, Viggiano E, Cavallaro F, Sframeli M, Bello L, Barp A, Bonfiglio S, Rolle E, Colia G, Catteruccia M, Palermo C, D'Angelo G, Pini A, Iotti E, Gorni K, Baranello G, Morandi L, Bertini E, Politano L, Sormani M, Mercuri E. Pane M, et al. Neuromuscul Disord. 2014 Mar;24(3):201-6. doi: 10.1016/j.nmd.2013.11.014. Epub 2013 Dec 5. Neuromuscul Disord. 2014. PMID: 24440357 Free article.
The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys.
Pane M, Mazzone ES, Sivo S, Fanelli L, De Sanctis R, D'Amico A, Messina S, Battini R, Bianco F, Scutifero M, Petillo R, Frosini S, Scalise R, Vita GL, Bruno C, Pedemonte M, Mongini T, Pegoraro E, Brustia F, Gardani A, Berardinelli A, Lanzillotta V, Viggiano E, Cavallaro F, Sframeli M, Bello L, Barp A, Busato F, Bonfiglio S, Rolle E, Colia G, Bonetti A, Palermo C, Graziano A, D'Angelo G, Pini A, Corlatti A, Gorni K, Baranello G, Antonaci L, Bertini E, Politano L, Mercuri E. Pane M, et al. PLoS Curr. 2014 Oct 7;6:ecurrents.md.a93d9904d57dcb08936f2ea89bca6fe6. doi: 10.1371/currents.md.a93d9904d57dcb08936f2ea89bca6fe6. PLoS Curr. 2014. PMID: 25642376 Free PMC article.
Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients.
Faravelli I, Meneri M, Saccomanno D, Velardo D, Abati E, Gagliardi D, Parente V, Petrozzi L, Ronchi D, Stocchetti N, Calderini E, D'Angelo G, Chidini G, Prandi E, Ricci G, Siciliano G, Bresolin N, Comi GP, Corti S, Magri F, Govoni A. Faravelli I, et al. J Cell Mol Med. 2020 Mar;24(5):3034-3039. doi: 10.1111/jcmm.14939. Epub 2020 Feb 7. J Cell Mol Med. 2020. PMID: 32032473 Free PMC article.
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test.
Pane M, Fanelli L, Mazzone ES, Olivieri G, D'Amico A, Messina S, Scutifero M, Battini R, Petillo R, Frosini S, Sivo S, Vita GL, Bruno C, Mongini T, Pegoraro E, De Sanctis R, Gardani A, Berardinelli A, Lanzillotta V, Carlesi A, Viggiano E, Cavallaro F, Sframeli M, Bello L, Barp A, Bianco F, Bonfiglio S, Rolle E, Palermo C, D'Angelo G, Pini A, Iotti E, Gorni K, Baranello G, Bertini E, Politano L, Sormani MP, Mercuri E. Pane M, et al. Neuromuscul Disord. 2015 Oct;25(10):749-53. doi: 10.1016/j.nmd.2015.07.009. Epub 2015 Jul 17. Neuromuscul Disord. 2015. PMID: 26248957 Free PMC article.
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