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Alberto Spagnoli
Publications - 2
Citations - 440
Alberto Spagnoli is an academic researcher. The author has contributed to research in topics: Mutation (genetic algorithm) & Compound heterozygosity. The author has an hindex of 2, co-authored 2 publications receiving 404 citations.
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A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
Giuseppe Di Fede,Marcella Catania,Michela Morbin,Giacomina Rossi,Silvia Suardi,Giulia Mazzoleni,Marco Merlin,Anna Rita Giovagnoli,Sara Prioni,Alessandra Erbetta,Chiara Falcone,Marco Gobbi,Laura Colombo,Antonio Bastone,Marten Beeg,Claudia Manzoni,Bruna Francescucci,Alberto Spagnoli,Laura Cantù,Elena Del Favero,Efrat Levy,Mario Salmona,Fabrizio Tagliavini +22 more
TL;DR: An APP mutation that causes disease only in the homozygous state, whereas heterozygous carriers were unaffected, consistent with a recessive Mendelian trait of inheritance is found, with implications for genetic screening and the potential treatment of Alzheimer's disease.
Journal ArticleDOI
Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features.
Giorgio Giaccone,Michela Morbin,Fabio Moda,Mario Botta,Giulia Mazzoleni,Andrea Uggetti,Marcella Catania,Maria Luisa Moro,Veronica Redaelli,Alberto Spagnoli,Roberta Simona Rossi,Mario Salmona,Giuseppe Di Fede,Fabrizio Tagliavini +13 more
TL;DR: The neuropathological picture of familial AD caused by the APP recessive mutation A673V presents distinctive characteristics compared to sporadic AD or familial AD inherited as a dominant trait, including the morphology, structural properties and composition of the Aβ deposits as well as their topographic distribution in the brain.