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Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE. Courage C, et al. Among authors: filla a. Am J Hum Genet. 2021 Apr 1;108(4):722-738. doi: 10.1016/j.ajhg.2021.03.013. Am J Hum Genet. 2021. PMID: 33798445 Free PMC article.
Determinants of onset age in Friedreich's ataxia.
De Michele G, Filla A, Criscuolo C, Scarano V, Cavalcanti F, Pianese L, Monticelli A, Cocozza S. De Michele G, et al. Among authors: filla a. J Neurol. 1998 Mar;245(3):166-8. doi: 10.1007/s004150050198. J Neurol. 1998. PMID: 9553847
Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells.
Pianese L, Busino L, De Biase I, De Cristofaro T, Lo Casale MS, Giuliano P, Monticelli A, Turano M, Criscuolo C, Filla A, Varrone S, Cocozza S. Pianese L, et al. Among authors: filla a. Hum Mol Genet. 2002 Nov 1;11(23):2989-96. doi: 10.1093/hmg/11.23.2989. Hum Mol Genet. 2002. PMID: 12393810
DNA damage induced by polyglutamine-expanded proteins.
Giuliano P, De Cristofaro T, Affaitati A, Pizzulo GM, Feliciello A, Criscuolo C, De Michele G, Filla A, Avvedimento EV, Varrone S. Giuliano P, et al. Among authors: filla a. Hum Mol Genet. 2003 Sep 15;12(18):2301-9. doi: 10.1093/hmg/ddg242. Epub 2003 Jul 22. Hum Mol Genet. 2003. PMID: 12915485
339 results