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Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models.
Neri I, Ramazzotti G, Mongiorgi S, Rusciano I, Bugiani M, Conti L, Cousin M, Giorgio E, Padiath QS, Vaula G, Cortelli P, Manzoli L, Ratti S. Neri I, et al. Among authors: giorgio e. Mol Neurobiol. 2023 Nov;60(11):6362-6372. doi: 10.1007/s12035-023-03461-1. Epub 2023 Jul 14. Mol Neurobiol. 2023. PMID: 37450245 Free PMC article. Review.
Novel mutation of SLC20A2 in an Italian patient presenting with migraine.
Rubino E, Giorgio E, Gallone S, Pinessi L, Orsi L, Gentile S, Duca S, Brusco A. Rubino E, et al. Among authors: giorgio e. J Neurol. 2014 Oct;261(10):2019-21. doi: 10.1007/s00415-014-7475-8. Epub 2014 Sep 2. J Neurol. 2014. PMID: 25178512 Free article. No abstract available.
Possible influence of a non-synonymous polymorphism located in the NGF precursor on susceptibility to late-onset Alzheimer's disease and mild cognitive impairment.
Di Maria E, Giorgio E, Uliana V, Bonvicini C, Faravelli F, Cammarata S, Novello MC, Galimberti D, Scarpini E, Zanetti O, Gennarelli M, Tabaton M. Di Maria E, et al. Among authors: giorgio e. J Alzheimers Dis. 2012;29(3):699-705. doi: 10.3233/JAD-2012-112006. J Alzheimers Dis. 2012. PMID: 22330829 Free article.
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Giorgio E, et al. Hum Mutat. 2013 Aug;34(8):1160-71. doi: 10.1002/humu.22348. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23649844 Free PMC article.
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A. Mancini C, et al. Among authors: giorgio e. J Neurol. 2015 Jan;262(1):173-8. doi: 10.1007/s00415-014-7553-y. Epub 2014 Oct 31. J Neurol. 2015. PMID: 25359263 Free article.
Messenger RNA processing is altered in autosomal dominant leukodystrophy.
Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S. Bartoletti-Stella A, et al. Among authors: giorgio e. Hum Mol Genet. 2015 May 15;24(10):2746-56. doi: 10.1093/hmg/ddv034. Epub 2015 Jan 30. Hum Mol Genet. 2015. PMID: 25637521 Free PMC article.
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).
Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, Gasparini L, Ferrera D, Canale C, Guipponi M, Pennacchio LA, Antonarakis SE, Brussino A, Brusco A. Giorgio E, et al. Hum Mol Genet. 2015 Jun 1;24(11):3143-54. doi: 10.1093/hmg/ddv065. Epub 2015 Feb 20. Hum Mol Genet. 2015. PMID: 25701871 Free PMC article.
189 results