Cargando…
Rare ABCA7 variants in 2 German families with Alzheimer disease
OBJECTIVE: The aim of this study was to identify variants associated with familial late-onset Alzheimer disease (AD) using whole-genome sequencing. METHODS: Several families with an autosomal dominant inheritance pattern of AD were analyzed by whole-genome sequencing. Variants were prioritized for r...
Autores principales: | May, Patrick, Pichler, Sabrina, Hartl, Daniela, Bobbili, Dheeraj R., Mayhaus, Manuel, Spaniol, Christian, Kurz, Alexander, Balling, Rudi, Schneider, Jochen G., Riemenschneider, Matthias |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863691/ https://www.ncbi.nlm.nih.gov/pubmed/29577078 http://dx.doi.org/10.1212/NXG.0000000000000224 |
Ejemplares similares
-
A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease
por: Hartl, Daniela, et al.
Publicado: (2018) -
High-affinity Anticalins with aggregation-blocking activity directed against the Alzheimer β-amyloid peptide
por: Rauth, Sabine, et al.
Publicado: (2016) -
Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk
por: Bobbili, Dheeraj Reddy, et al.
Publicado: (2020) -
Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants
por: Nuytemans, Karen, et al.
Publicado: (2016) -
ABCA3 Deficiency—Variant-Specific Response to Hydroxychloroquine
por: Yang, Xiaohua, et al.
Publicado: (2023)