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Year Number of Results
1997 3
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2007 1
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46 results

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Page 1
Inherited neuropathies.
Schenone A, Nobbio L, Monti Bragadin M, Ursino G, Grandis M. Schenone A, et al. Among authors: nobbio l. Curr Treat Options Neurol. 2011 Apr;13(2):160-79. doi: 10.1007/s11940-011-0115-z. Curr Treat Options Neurol. 2011. PMID: 21286948
Tezacaftor is a direct inhibitor of sphingolipid delta-4 desaturase enzyme (DEGS).
Ciobanu DZ, Liessi N, Tomati V, Capurro V, Bertozzi SM, Summa M, Bertorelli R, Loberto N, Dobi D, Aureli M, Nobbio L, Bandiera T, Pedemonte N, Bassi R, Armirotti A. Ciobanu DZ, et al. Among authors: nobbio l. J Cyst Fibros. 2024 Nov;23(6):1167-1172. doi: 10.1016/j.jcf.2024.05.004. Epub 2024 May 24. J Cyst Fibros. 2024. PMID: 38789319 Free article.
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Fiorillo C, Capodivento G, Geroldi A, Tozza S, Moroni I, Mohassel P, Cataldi M, Campana C, Morando S, Panicucci C, Pedemonte M, Brolatti N, Siliquini S, Traverso M, Baratto S, Debellis D, Magri S, Prada V, Bellone E, Salpietro V, Donkervoort S, Gable K, Gupta SD, Dunn TM, Bönnemann CG, Taroni F, Bruno C, Schenone A, Mandich P, Nobbio L, Nolano M. Fiorillo C, et al. Among authors: nobbio l. Neuropathol Appl Neurobiol. 2022 Dec;48(7):e12842. doi: 10.1111/nan.12842. Epub 2022 Aug 10. Neuropathol Appl Neurobiol. 2022. PMID: 35904184 Free PMC article.
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.
Veneri FA, Prada V, Mastrangelo R, Ferri C, Nobbio L, Passalacqua M, Milanesi M, Bianchi F, Del Carro U, Vallat JM, Duong P, Svaren J, Schenone A, Grandis M, D'Antonio M. Veneri FA, et al. Among authors: nobbio l. Hum Mol Genet. 2022 Dec 16;31(24):4255-4274. doi: 10.1093/hmg/ddac170. Hum Mol Genet. 2022. PMID: 35908287 Free PMC article.
Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
Gemelli C, Geroldi A, Massucco S, Trevisan L, Callegari I, Marinelli L, Ursino G, Hamedani M, Mennella G, Stara S, Maggi G, Mori L, Schenone C, Gotta F, Patrone S, Mammi A, Origone P, Prada V, Nobbio L, Mandich P, Schenone A, Bellone E, Grandis M. Gemelli C, et al. Among authors: nobbio l. Life (Basel). 2022 Mar 10;12(3):402. doi: 10.3390/life12030402. Life (Basel). 2022. PMID: 35330153 Free PMC article.
Responsiveness of clinical outcome measures in Charcot-Marie-Tooth disease.
Piscosquito G, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, Manganelli F, Vita G, Quattrone A, Padua L, Gemignani F, Visioli F, Laurà M, Calabrese D, Hughes RA, Radice D, Solari A, Pareyson D; CMT-TRIAAL Group; CMT-TRAUK Group. Piscosquito G, et al. Eur J Neurol. 2015 Dec;22(12):1556-63. doi: 10.1111/ene.12783. Epub 2015 Jul 31. Eur J Neurol. 2015. PMID: 26227902
46 results