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Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.
Rossi G, Bastone A, Piccoli E, Morbin M, Mazzoleni G, Fugnanesi V, Beeg M, Del Favero E, Cantù L, Motta S, Salsano E, Pareyson D, Erbetta A, Elia AE, Del Sorbo F, Silani V, Morelli C, Salmona M, Tagliavini F. Rossi G, et al. Among authors: erbetta a. Neurobiol Aging. 2014 Feb;35(2):408-17. doi: 10.1016/j.neurobiolaging.2013.08.004. Epub 2013 Sep 7. Neurobiol Aging. 2014. PMID: 24018212
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
Di Fede G, Catania M, Morbin M, Rossi G, Suardi S, Mazzoleni G, Merlin M, Giovagnoli AR, Prioni S, Erbetta A, Falcone C, Gobbi M, Colombo L, Bastone A, Beeg M, Manzoni C, Francescucci B, Spagnoli A, Cantù L, Del Favero E, Levy E, Salmona M, Tagliavini F. Di Fede G, et al. Among authors: erbetta a. Science. 2009 Mar 13;323(5920):1473-7. doi: 10.1126/science.1168979. Science. 2009. PMID: 19286555 Free PMC article.
Selective theory of mind impairment and cerebellar atrophy: a case report.
Parente A, Manfredi V, Tarallo A, Salsano E, Erbetta A, Pareyson D, Giovagnoli AR. Parente A, et al. Among authors: erbetta a. J Neurol. 2013 Aug;260(8):2166-9. doi: 10.1007/s00415-013-6985-0. Epub 2013 Jun 16. J Neurol. 2013. PMID: 23771507 No abstract available.
133 results