Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family

OBJECTIVE: To report, for the first time, a large autosomal dominant Alzheimer disease (AD) family in which the APP A713T mutation is present in the homozygous and heterozygous state. To date, the mutation has been reported as dominant, and in the heterozygous state associated with familial AD and c...

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Publicat a:Neurology
Autors principals: Conidi, Maria E., Bernardi, Livia, Puccio, Gianfranco, Smirne, Nicoletta, Muraca, Maria G., Curcio, Sabrina A.M., Colao, Rosanna, Piscopo, Paola, Gallo, Maura, Anfossi, Maria, Frangipane, Francesca, Clodomiro, Alessandra, Mirabelli, Maria, Vasso, Franca, Cupidi, Chiara, Torchia, Giusi, Di Lorenzo, Raffaele, Mandich, Paola, Confaloni, Annamaria, Maletta, Raffaele G., Bruni, Amalia C.
Format: Artigo
Idioma:Inglês
Publicat: Lippincott Williams & Wilkins 2015
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4456653/
https://ncbi.nlm.nih.gov/pubmed/25948718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001648
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