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Can MR imaging diagnose adult-onset Alexander disease?
Farina L, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambaro P, Fancellu R, Savoiardo M. Farina L, et al. Among authors: ceccherini i. AJNR Am J Neuroradiol. 2008 Jun;29(6):1190-6. doi: 10.3174/ajnr.A1060. Epub 2008 Apr 3. AJNR Am J Neuroradiol. 2008. PMID: 18388212 Free PMC article.
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
Melchionda L, Fang M, Wang H, Fugnanesi V, Morbin M, Liu X, Li W, Ceccherini I, Farina L, Savoiardo M, D'Adamo P, Zhang J, Costa A, Ravaglia S, Ghezzi D, Zeviani M. Melchionda L, et al. Among authors: ceccherini i. Orphanet J Rare Dis. 2013 May 1;8:66. doi: 10.1186/1750-1172-8-66. Orphanet J Rare Dis. 2013. PMID: 23634874 Free PMC article.
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
Caroli F, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M. Caroli F, et al. Among authors: ceccherini i. Clin Genet. 2007 Nov;72(5):427-33. doi: 10.1111/j.1399-0004.2007.00869.x. Epub 2007 Sep 25. Clin Genet. 2007. PMID: 17894839
A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities.
Bachetti T, Di Zanni E, Lantieri F, Caroli F, Regis S, Filocamo M, Rainero I, Gallone S, Cilia R, Romano S, Savoiardo M, Pareyson D, Biancheri R, Ravazzolo R, Ceccherini I. Bachetti T, et al. Among authors: ceccherini i. Ann Hum Genet. 2010 Nov;74(6):506-15. doi: 10.1111/j.1469-1809.2010.00614.x. Ann Hum Genet. 2010. PMID: 20946255
An autoinflammatory neurological disease due to interleukin 6 hypersecretion.
Salsano E, Rizzo A, Bedini G, Bernard L, Dall'olio V, Volorio S, Lazzaroni M, Ceccherini I, Lazarevic D, Cittaro D, Stupka E, Paterra R, Farina L, Savoiardo M, Pareyson D, Sciacca FL. Salsano E, et al. Among authors: ceccherini i. J Neuroinflammation. 2013 Feb 21;10:29. doi: 10.1186/1742-2094-10-29. J Neuroinflammation. 2013. PMID: 23432807 Free PMC article.
Adult-onset Alexander disease : report on a family.
Balbi P, Seri M, Ceccherini I, Uggetti C, Casale R, Fundarò C, Caroli F, Santoro L. Balbi P, et al. Among authors: ceccherini i. J Neurol. 2008 Jan;255(1):24-30. doi: 10.1007/s00415-007-0654-0. Epub 2007 Nov 21. J Neurol. 2008. PMID: 18004641
265 results