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Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
Ricci G, Mele F, Govi M, Ruggiero L, Sera F, Vercelli L, Bettio C, Santoro L, Mongini T, Villa L, Moggio M, Filosto M, Scarlato M, Previtali SC, Tripodi SM, Pegoraro E, Telese R, Di Muzio A, Rodolico C, Bucci E, Antonini G, D'Angelo MG, Berardinelli A, Maggi L, Piras R, Maioli MA, Siciliano G, Tomelleri G, Angelini C, Tupler R. Ricci G, et al. Among authors: previtali sc. Sci Rep. 2020 Dec 10;10(1):21648. doi: 10.1038/s41598-020-78578-7. Sci Rep. 2020. PMID: 33303865 Free PMC article.
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.
Benedetti S, Bertini E, Iannaccone S, Angelini C, Trisciani M, Toniolo D, Sferrazza B, Carrera P, Comi G, Ferrari M, Quattrini A, Previtali SC. Benedetti S, et al. Among authors: previtali sc. J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1019-21. doi: 10.1136/jnnp.2004.046110. J Neurol Neurosurg Psychiatry. 2005. PMID: 15965218 Free PMC article.
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC. Benedetti S, et al. Among authors: previtali sc. Neurology. 2007 Sep 18;69(12):1285-92. doi: 10.1212/01.wnl.0000261254.87181.80. Epub 2007 Mar 21. Neurology. 2007. PMID: 17377071
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis.
Benedetti S, Previtali SC, Coviello S, Scarlato M, Cerri F, Di Pierri E, Piantoni L, Spiga I, Fazio R, Riva N, Natali Sora MG, Dacci P, Malaguti MC, Munerati E, Grimaldi LM, Marrosu MG, De Pellegrin M, Ferrari M, Comi G, Quattrini A, Bolino A. Benedetti S, et al. Among authors: previtali sc. Arch Neurol. 2010 Dec;67(12):1498-505. doi: 10.1001/archneurol.2010.303. Arch Neurol. 2010. PMID: 21149811
Motor nerve biopsy: clinical usefulness and histopathological criteria.
Riva N, Iannaccone S, Corbo M, Casellato C, Sferrazza B, Lazzerini A, Scarlato M, Cerri F, Previtali SC, Nobile-Orazio E, Comi G, Quattrini A. Riva N, et al. Among authors: previtali sc. Ann Neurol. 2011 Jan;69(1):197-201. doi: 10.1002/ana.22110. Epub 2010 Nov 12. Ann Neurol. 2011. PMID: 21280090
POEMS syndrome: the matter-of-fact approach.
Scarlato M, Previtali SC. Scarlato M, et al. Among authors: previtali sc. Curr Opin Neurol. 2011 Oct;24(5):491-6. doi: 10.1097/WCO.0b013e328348e107. Curr Opin Neurol. 2011. PMID: 21677582 Review.
Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.
Mazzone E, Vasco G, Sormani MP, Torrente Y, Berardinelli A, Messina S, D'Amico A, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Bonfiglio S, Zucchini E, De Sanctis R, Scutifero M, Bianco F, Rossi F, Motta MC, Sacco A, Donati MA, Mongini T, Pini A, Battini R, Pegoraro E, Pane M, Gasperini S, Previtali S, Napolitano S, Martinelli D, Bruno C, Vita G, Comi G, Bertini E, Mercuri E. Mazzone E, et al. Neurology. 2011 Jul 19;77(3):250-6. doi: 10.1212/WNL.0b013e318225ab2e. Epub 2011 Jul 6. Neurology. 2011. PMID: 21734183
The empowerment of translational research: lessons from laminopathies.
Benedetti S, Bernasconi P, Bertini E, Biagini E, Boriani G, Capanni C, Carboni N, Cenacchi G, Columbaro M, D'Adamo M, D'Amico A, D'Apice MR, Fontana M, Gambineri A, Lattanzi G, Liguori R, Maraldi NM, Mazzanti L, Mercuri E, Mongini T, Morandi LO, Neri I, Nigro G, Novelli G, Ortolani M, Pasquali R, Pini A, Petrini S, Politano L, Previtali S, Pucci L, Rapezzi C, Ricci G, Rodolico C, Sbraccia P, Scarano E, Siciliano G, Squarzoni S, Toscano A, Vercelli L, Ziacchi M. Benedetti S, et al. Orphanet J Rare Dis. 2012 Jun 12;7:37. doi: 10.1186/1750-1172-7-37. Orphanet J Rare Dis. 2012. PMID: 22691392 Free PMC article.
147 results