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Abnormal neutrophil signature in the blood and pancreas of presymptomatic and symptomatic type 1 diabetes.
Vecchio F, Lo Buono N, Stabilini A, Nigi L, Dufort MJ, Geyer S, Rancoita PM, Cugnata F, Mandelli A, Valle A, Leete P, Mancarella F, Linsley PS, Krogvold L, Herold KC, Elding Larsson H, Richardson SJ, Morgan NG, Dahl-Jørgensen K, Sebastiani G, Dotta F, Bosi E; DRI_Biorepository Group; Type 1 Diabetes TrialNet Study Group; Battaglia M. Vecchio F, et al. Among authors: lo buono n. JCI Insight. 2018 Sep 20;3(18):e122146. doi: 10.1172/jci.insight.122146. eCollection 2018 Sep 20. JCI Insight. 2018. PMID: 30232284 Free PMC article.
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.
Mancini C, Roncaglia P, Brussino A, Stevanin G, Lo Buono N, Krmac H, Maltecca F, Gazzano E, Bartoletti Stella A, Calvaruso MA, Iommarini L, Cagnoli C, Forlani S, Le Ber I, Durr A, Brice A, Ghigo D, Casari G, Porcelli AM, Funaro A, Gasparre G, Gustincich S, Brusco A. Mancini C, et al. Among authors: lo buono n. BMC Med Genomics. 2013 Jun 18;6:22. doi: 10.1186/1755-8794-6-22. BMC Med Genomics. 2013. PMID: 23777634 Free PMC article.
Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcript.
Ferrero E, Lo Buono N, Morone S, Parrotta R, Mancini C, Brusco A, Giacomino A, Augeri S, Rosal-Vela A, García-Rodríguez S, Zubiaur M, Sancho J, Fiorio Pla A, Funaro A. Ferrero E, et al. Among authors: lo buono n. Sci Rep. 2017 Nov 21;7(1):15923. doi: 10.1038/s41598-017-16184-w. Sci Rep. 2017. PMID: 29162908 Free PMC article.
ELOVL5 mutations cause spinocerebellar ataxia 38.
Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A. Di Gregorio E, et al. Among authors: lo buono n. Am J Hum Genet. 2014 Aug 7;95(2):209-17. doi: 10.1016/j.ajhg.2014.07.001. Epub 2014 Jul 24. Am J Hum Genet. 2014. PMID: 25065913 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: lo buono n. 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.
The ADP-ribosyl cyclases--the current evolutionary state of the ARCs.
Ferrero E, Lo Buono N, Horenstein AL, Funaro A, Malavasi F. Ferrero E, et al. Among authors: lo buono n. Front Biosci (Landmark Ed). 2014 Jun 1;19(6):986-1002. doi: 10.2741/4262. Front Biosci (Landmark Ed). 2014. PMID: 24896331 Free article. Review.
18 results