Frontotemporal Lobar Degeneration Case with an N-Terminal TUBA4A Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology

Recently, disease-associated variants of the TUBA4A gene were identified in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here, we present the neuropathological report of a patient with the semantic variant of primary progressive aphasia with a family history o...

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Detalles Bibliográficos
Autores principales: Van Schoor, Evelien, Vandenbulcke, Mathieu, Bercier, Valérie, Vandenberghe, Rik, van der Zee, Julie, Van Broeckhoven, Christine, Otto, Markus, Hanseeuw, Bernard, Van Damme, Philip, Van Den Bosch, Ludo, Thal, Dietmar Rudolf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8946841/
https://www.ncbi.nlm.nih.gov/pubmed/35327632
http://dx.doi.org/10.3390/biom12030440

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