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153 results

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Page 1
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy.
Ruggiero L, Mele F, Manganelli F, Bruzzese D, Ricci G, Vercelli L, Govi M, Vallarola A, Tripodi S, Villa L, Di Muzio A, Scarlato M, Bucci E, Antonini G, Maggi L, Rodolico C, Tomelleri G, Filosto M, Previtali S, Angelini C, Berardinelli A, Pegoraro E, Moggio M, Mongini T, Siciliano G, Santoro L, Tupler R. Ruggiero L, et al. Among authors: previtali s. JAMA Netw Open. 2020 May 1;3(5):e204040. doi: 10.1001/jamanetworkopen.2020.4040. JAMA Netw Open. 2020. PMID: 32356886 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
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP. Virgilio R, et al. Among authors: previtali s. J Neurol. 2008 Sep;255(9):1384-91. doi: 10.1007/s00415-008-0926-3. Epub 2008 Jun 30. J Neurol. 2008. PMID: 18575922
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. 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. Among authors: previtali s. 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. Among authors: previtali s. 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.
153 results