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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: filla a. Neurol Genet. 2022 Mar 30;8(2):e664. doi: 10.1212/NXG.0000000000000664. eCollection 2022 Apr. Neurol Genet. 2022. PMID: 35372684 Free PMC article.
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.
Casali C, Valente EM, Bertini E, Montagna G, Criscuolo C, De Michele G, Villanova M, Damiano M, Pierallini A, Brancati F, Scarano V, Tessa A, Cricchi F, Grieco GS, Muglia M, Carella M, Martini B, Rossi A, Amabile GA, Nappi G, Filla A, Dallapiccola B, Santorelli FM. Casali C, et al. Among authors: filla a. Neurology. 2004 Jan 27;62(2):262-8. doi: 10.1212/wnl.62.2.262. Neurology. 2004. PMID: 14745065
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.
Coppola G, Criscuolo C, De Michele G, Striano S, Barbieri F, Striano P, Perretti A, Santoro L, Brescia Morra V, Saccà F, Scarano V, D'Adamo AP, Banfi S, Gasparini P, Santorelli FM, Lehesjoki AE, Filla A. Coppola G, et al. Among authors: filla a. J Neurol. 2005 Aug;252(8):897-900. doi: 10.1007/s00415-005-0766-3. Epub 2005 Mar 8. J Neurol. 2005. PMID: 15742102
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.
Criscuolo C, Chessa L, Di Giandomenico S, Mancini P, Saccà F, Grieco GS, Piane M, Barbieri F, De Michele G, Banfi S, Pierelli F, Rizzuto N, Santorelli FM, Gallosti L, Filla A, Casali C. Criscuolo C, et al. Among authors: filla a. Neurology. 2006 Apr 25;66(8):1207-10. doi: 10.1212/01.wnl.0000208402.10512.4a. Neurology. 2006. PMID: 16636238
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: filla a. Neurogenetics. 2006 Jul;7(3):149-56. doi: 10.1007/s10048-006-0044-2. Epub 2006 May 13. Neurogenetics. 2006. PMID: 16699786
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A. Stevanin G, et al. Among authors: filla a. Nat Genet. 2007 Mar;39(3):366-72. doi: 10.1038/ng1980. Epub 2007 Feb 18. Nat Genet. 2007. PMID: 17322883 Free article.
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: filla a. 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: filla a. 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: filla a. Hum Mutat. 2009 Mar;30(3):E500-19. doi: 10.1002/humu.20945. Hum Mutat. 2009. PMID: 19105190 Free article.
337 results