Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum

The missense mutation p.R406W in microtubule-associated protein tau leads to frontotemporal lobar degeneration with an amnestic, Alzheimer’s disease-like phenotype with an autosomal dominant pattern of inheritance. In 2003, we described the pedigree of a Belgian family, labelled ADG, with 28 p.R406W...

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Detalles Bibliográficos
Autores principales: Gossye, Helena, Van Mossevelde, Sara, Sieben, Anne, Bjerke, Maria, Hendrickx Van de Craen, Elisabeth, van der Zee, Julie, De Deyn, Peter P, De Bleecker, Jan, Versijpt, Jan, van den Ende, Jenneke, Deryck, Olivier, Bourgeois, Paul, Bier, Jean-Christophe, Goethals, Maarten, Vandenberghe, Rik, Engelborghs, Sebastiaan, Van Broeckhoven, Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115352/
https://www.ncbi.nlm.nih.gov/pubmed/36171642
http://dx.doi.org/10.1093/brain/awac362

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