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A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
Geroldi A, Tozza S, Fiorillo C, Nolano M, Fossa P, Vitale F, Domi R, Gaudio A, Mammi A, Patrone S, Barbera A, Origone P, Ponti C, Sanguineri F, Zara F, Cataldi M, Salpietro V, Venturi CB, Massucco S, Schenone A, Manganelli F, Mandich P, Bellone E, Gotta F. Geroldi A, et al. Among authors: schenone a. J Peripher Nerv Syst. 2023 Dec;28(4):620-628. doi: 10.1111/jns.12602. Epub 2023 Nov 13. J Peripher Nerv Syst. 2023. PMID: 37897416
Does parkin play a role in the peripheral nervous system? A family report.
Abbruzzese G, Pigullo S, Schenone A, Bellone E, Marchese R, Di Maria E, Benedetti L, Ciotti P, Nobbio L, Bonifati V, Ajmar F, Mandich P. Abbruzzese G, et al. Among authors: schenone a. Mov Disord. 2004 Aug;19(8):978-81. doi: 10.1002/mds.20113. Mov Disord. 2004. PMID: 15300670
Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene.
Mandich P, Grandis M, Varese A, Geroldi A, Acquaviva M, Ciotti P, Gulli R, Doria-Lamba L, Fabrizi GM, Giribaldi G, Pizzuti A, Schenone A, Bellone E. Mandich P, et al. Among authors: schenone a. J Child Neurol. 2010 Jan;25(1):107-9. doi: 10.1177/0883073809334387. Epub 2009 May 11. J Child Neurol. 2010. PMID: 19435728
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.
Grandis M, Gulli R, Cassandrini D, Gazzerro E, Benedetti L, Narciso E, Nobbio L, Bruno C, Minetti C, Bellone E, Reni L, Mancardi GL, Mandich P, Schenone A. Grandis M, et al. Among authors: schenone a. Neurol Sci. 2010 Jun;31(3):377-80. doi: 10.1007/s10072-010-0248-y. Epub 2010 Mar 19. Neurol Sci. 2010. PMID: 20300792
Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.
Prada V, Passalacqua M, Bono M, Luzzi P, Scazzola S, Nobbio LA, Capponi S, Bellone E, Mandich P, Mancardi G, Shy M, Schenone A, Grandis M. Prada V, et al. Among authors: schenone a. Ann Neurol. 2012 Mar;71(3):427-31. doi: 10.1002/ana.22695. Ann Neurol. 2012. PMID: 22451207 Free PMC article.
Clinical epidemiology of ALS in Liguria, Italy.
Bandettini di Poggio M, Sormani MP, Truffelli R, Mandich P, Origone P, Verdiani S, Mantero V, Scialò C, Schenone A, Mancardi GL, Caponnetto C; LIGALS. Bandettini di Poggio M, et al. Among authors: schenone a. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Jan;14(1):52-7. doi: 10.3109/17482968.2012.729062. Epub 2012 Oct 3. Amyotroph Lateral Scler Frontotemporal Degener. 2013. PMID: 23030513
Innovative quantitative testing of hand function in Charcot-Marie-Tooth neuropathy.
Alberti MA, Mori L, Francini L, Poggi I, Monti Bragadin M, Bellone E, Grandis M, Maggi G, Reni L, Sormani MP, Tacchino A, Padua L, Prada V, Bove M, Schenone A. Alberti MA, et al. Among authors: schenone a. J Peripher Nerv Syst. 2015 Dec;20(4):410-4. doi: 10.1111/jns.12150. J Peripher Nerv Syst. 2015. PMID: 26456943
465 results