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Page 1
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Rossi S, Rubegni A, Riso V, Barghigiani M, Bassi MT, Battini R, Bertini E, Cereda C, Cioffi E, Criscuolo C, Dal Fabbro B, Dato C, D'Angelo MG, Di Muzio A, Diamanti L, Dotti MT, Filla A, Gioiosa V, Liguori R, Martinuzzi A, Massa R, Mignarri A, Moroni R, Musumeci O, Nicita F, Orologio I, Orsi L, Pegoraro E, Petrucci A, Plumari M, Ricca I, Rizzo G, Romano S, Rumore R, Sampaolo S, Scarlato M, Seri M, Stefan C, Straccia G, Tessa A, Travaglini L, Trovato R, Ulgheri L, Vazza G, Orlacchio A, Silvestri G, Santorelli FM, Melone MAB, Casali C. Rossi S, et al. Among authors: silvestri g. Neurol Genet. 2022 Mar 30;8(2):e664. doi: 10.1212/NXG.0000000000000664. eCollection 2022 Apr. Neurol Genet. 2022. PMID: 35372684 Free PMC article.
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.
Stevanin G, Montagna G, Azzedine H, Valente EM, Durr A, Scarano V, Bouslam N, Cassandrini D, Denora PS, Criscuolo C, Belarbi S, Orlacchio A, Jonveaux P, Silvestri G, Hernandez AM, De Michele G, Tazir M, Mariotti C, Brockmann K, Malandrini A, van der Knapp MS, Neri M, Tonekaboni H, Melone MA, Tessa A, Dotti MT, Tosetti M, Pauri F, Federico A, Casali C, Cruz VT, Loureiro JL, Zara F, Forlani S, Bertini E, Coutinho P, Filla A, Brice A, Santorelli FM. Stevanin G, et al. Among authors: silvestri g. Neurogenetics. 2006 Jul;7(3):149-56. doi: 10.1007/s10048-006-0044-2. Epub 2006 May 13. Neurogenetics. 2006. PMID: 16699786
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.
Tessa A, Silvestri G, de Leva MF, Modoni A, Denora PS, Masciullo M, Dotti MT, Casali C, Melone MA, Federico A, Filla A, Santorelli FM. Tessa A, et al. Among authors: silvestri g. J Neurol. 2008 Jul;255(7):1090-2. doi: 10.1007/s00415-008-0840-8. Epub 2008 Jun 2. J Neurol. 2008. PMID: 18500496 No abstract available.
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
Denora PS, Muglia M, Casali C, Truchetto J, Silvestri G, Messina D, Boukrhis A, Magariello A, Modoni A, Masciullo M, Malandrini A, Morelli M, de Leva MF, Villanova M, Giugni E, Citrigno L, Rizza T, Federico A, Pierallini A, Quattrone A, Filla A, Brice A, Stevanin G, Santorelli FM. Denora PS, et al. Among authors: silvestri g. J Neurol Sci. 2009 Feb 15;277(1-2):22-5. doi: 10.1016/j.jns.2008.09.039. Epub 2008 Dec 13. J Neurol Sci. 2009. PMID: 19084844
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug-Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Di Fabio R, Piccolo F, Denis E, Cioni G, Massa R, Della Giustina E, Calabrese O, Melone MA, De Michele G, Federico A, Bertini E, Durr A, Brockmann K, van der Knaap MS, Zatz M, Filla A, Brice A, Stevanin G, Santorelli FM. Denora PS, et al. Among authors: silvestri g. Hum Mutat. 2009 Mar;30(3):E500-19. doi: 10.1002/humu.20945. Hum Mutat. 2009. PMID: 19105190 Free article.
Abnormal functional brain connectivity and personality traits in myotonic dystrophy type 1.
Serra L, Silvestri G, Petrucci A, Basile B, Masciullo M, Makovac E, Torso M, Spanò B, Mastropasqua C, Harrison NA, Bianchi ML, Giacanelli M, Caltagirone C, Cercignani M, Bozzali M. Serra L, et al. Among authors: silvestri g. JAMA Neurol. 2014 May;71(5):603-11. doi: 10.1001/jamaneurol.2014.130. JAMA Neurol. 2014. PMID: 24664202
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.
Bianchi ML, Leoncini E, Masciullo M, Modoni A, Gadalla SM, Massa R, Rastelli E, Terracciano C, Antonini G, Bucci E, Petrucci A, Costanzi S, Santoro M, Boccia S, Silvestri G. Bianchi ML, et al. Among authors: silvestri g. J Neurol. 2016 Mar;263(3):492-8. doi: 10.1007/s00415-015-8006-y. Epub 2016 Jan 6. J Neurol. 2016. PMID: 26739382 Free PMC article.
1,047 results