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Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio MR, Biancheri R, Morbin M, Dalla Bernardina B, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE, Nardocci N, Santorelli FM. Cannelli N, et al. Among authors: pezzini f. Biochem Biophys Res Commun. 2009 Feb 20;379(4):892-7. doi: 10.1016/j.bbrc.2008.12.159. Epub 2009 Jan 7. Biochem Biophys Res Commun. 2009. PMID: 19135028
Involvement of the mitochondrial compartment in human NCL fibroblasts.
Pezzini F, Gismondi F, Tessa A, Tonin P, Carrozzo R, Mole SE, Santorelli FM, Simonati A. Pezzini F, et al. Biochem Biophys Res Commun. 2011 Dec 9;416(1-2):159-64. doi: 10.1016/j.bbrc.2011.11.016. Epub 2011 Nov 11. Biochem Biophys Res Commun. 2011. PMID: 22100646
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Bernardina BD, Sartori S, Suppiej A, Bertini E, Claps D, Battini R, Biancheri R, Filocamo M, Pezzini F, Simonati A. Santorelli FM, et al. Among authors: pezzini f. Orphanet J Rare Dis. 2013 Feb 2;8:19. doi: 10.1186/1750-1172-8-19. Orphanet J Rare Dis. 2013. PMID: 23374165 Free PMC article.
Quantitative analysis of PPT1 interactome in human neuroblastoma cells.
Scifo E, Szwajda A, Soliymani R, Pezzini F, Bianchi M, Dapkunas A, Dębski J, Uusi-Rauva K, Dadlez M, Gingras AC, Tyynelä J, Simonati A, Jalanko A, Baumann MH, Lalowski M. Scifo E, et al. Among authors: pezzini f. Data Brief. 2015 Jun 12;4:207-16. doi: 10.1016/j.dib.2015.05.016. eCollection 2015 Sep. Data Brief. 2015. PMID: 26217791 Free PMC article.
44 results