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Page 1
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. Among authors: petillo r. 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.
Novel mutations in LMNA A/C gene and associated phenotypes.
Petillo R, D'Ambrosio P, Torella A, Taglia A, Picillo E, Testori A, Ergoli M, Nigro G, Piluso G, Nigro V, Politano L. Petillo R, et al. Acta Myol. 2015 Dec;34(2-3):116-9. Acta Myol. 2015. PMID: 27199538 Free PMC article.
Brachydactyly type E in an Italian family with 6p25 trisomy.
Fontana P, Tortora C, Petillo R, Malacarne M, Cavani S, Miniero M, D'Ambrosio P, De Brasi D, Pisanti MA. Fontana P, et al. Among authors: petillo r. Eur J Med Genet. 2017 Mar;60(3):195-199. doi: 10.1016/j.ejmg.2017.01.006. Epub 2017 Jan 19. Eur J Med Genet. 2017. PMID: 28111183
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements.
D'Amico A, Catteruccia M, Baranello G, Politano L, Govoni A, Previtali SC, Pane M, D'Angelo MG, Bruno C, Messina S, Ricci F, Pegoraro E, Pini A, Berardinelli A, Gorni K, Battini R, Vita G, Trucco F, Scutifero M, Petillo R, D'Ambrosio P, Ardissone A, Pasanisi B, Vita G, Mongini T, Moggio M, Comi GP, Mercuri E, Bertini E. D'Amico A, et al. Among authors: petillo r. Neuromuscul Disord. 2017 May;27(5):447-451. doi: 10.1016/j.nmd.2017.02.006. Epub 2017 Feb 14. Neuromuscul Disord. 2017. PMID: 28262469 Free article.
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data.
Pane M, Coratti G, Brogna C, Mazzone ES, Mayhew A, Fanelli L, Messina S, D'Amico A, Catteruccia M, Scutifero M, Frosini S, Lanzillotta V, Colia G, Cavallaro F, Rolle E, De Sanctis R, Forcina N, Petillo R, Barp A, Gardani A, Pini A, Monaco G, D'Angelo MG, Zanin R, Vita GL, Bruno C, Mongini T, Ricci F, Pegoraro E, Bello L, Berardinelli A, Battini R, Sansone V, Albamonte E, Baranello G, Bertini E, Politano L, Sormani MP, Mercuri E. Pane M, et al. Among authors: petillo r. PLoS One. 2018 Jun 20;13(6):e0199223. doi: 10.1371/journal.pone.0199223. eCollection 2018. PLoS One. 2018. PMID: 29924848 Free PMC article.
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.
Altamura C, Lucchiari S, Sahbani D, Ulzi G, Comi GP, D'Ambrosio P, Petillo R, Politano L, Vercelli L, Mongini T, Dotti MT, Cardani R, Meola G, Lo Monaco M, Matthews E, Hanna MG, Carratù MR, Conte D, Imbrici P, Desaphy JF. Altamura C, et al. Among authors: petillo r. Hum Mutat. 2018 Sep;39(9):1273-1283. doi: 10.1002/humu.23581. Epub 2018 Jul 4. Hum Mutat. 2018. PMID: 29935101 Free article.
26 results