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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: santorelli fm. 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
Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1.
Di Fabio R, Comanducci G, Piccolo F, Santorelli FM, De Berardinis T, Tessa A, Sabatini U, Pierelli F, Casali C. Di Fabio R, et al. Among authors: santorelli fm. Cerebellum. 2013 Feb;12(1):140-3. doi: 10.1007/s12311-012-0396-0. Cerebellum. 2013. PMID: 22699964 No abstract available.
Somatic overgrowth predisposes to seizures in autism spectrum disorders.
Valvo G, Baldini S, Brachini F, Apicella F, Cosenza A, Ferrari AR, Guerrini R, Muratori F, Romano MF, Santorelli FM, Tancredi R, Sicca F. Valvo G, et al. Among authors: santorelli fm. PLoS One. 2013 Sep 23;8(9):e75015. doi: 10.1371/journal.pone.0075015. eCollection 2013. PLoS One. 2013. PMID: 24086423 Free PMC article.
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.
Ambrosini E, Sicca F, Brignone MS, D'Adamo MC, Napolitano C, Servettini I, Moro F, Ruan Y, Guglielmi L, Pieroni S, Servillo G, Lanciotti A, Valvo G, Catacuzzeno L, Franciolini F, Molinari P, Marchese M, Grottesi A, Guerrini R, Santorelli FM, Priori S, Pessia M. Ambrosini E, et al. Among authors: santorelli fm. Hum Mol Genet. 2014 Sep 15;23(18):4875-86. doi: 10.1093/hmg/ddu201. Epub 2014 May 2. Hum Mol Genet. 2014. PMID: 24794859 Free PMC article.
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.
Rubegni A, Pisano T, Bacci G, Tessa A, Battini R, Procopio E, Giglio S, Pasquariello R, Santorelli FM, Guerrini R, Nesti C. Rubegni A, et al. Among authors: santorelli fm. Eur J Paediatr Neurol. 2017 Jul;21(4):671-677. doi: 10.1016/j.ejpn.2017.04.004. Epub 2017 Apr 15. Eur J Paediatr Neurol. 2017. PMID: 28442211
608 results