Associated Papers
Rare ABCA7 mutations in Alzheimer's disease and cerebral amyloid angiopathy pathology.
Hendrickx Van de Craen E et al.
Neurobiology of Aging, 2026
ABCA7 variants impact phosphatidylcholine and mitochondria in neurons.
von Maydell D et al.
Nature, 2025
ABCA7 Loss-of-Function Variants Impact Phosphatidylcholine Metabolism in the Human Brain.
von Maydell D et al.
Biorxiv : the Preprint Server for Biology, 2025
Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2024
CSF biomarker analysis of ABCA7 mutation carriers suggests altered APP processing and reduced inflammatory response.
Duchateau L et al.
Alzheimer's Research & Therapy, 2023
Clinical Deep Phenotyping of ABCA7 Mutation Carriers.
Campbell AS et al.
Neurology. Genetics, 2022
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Acosta-Uribe J et al.
Genome Medicine, 2022
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
Khani M et al.
Molecular Neurodegeneration, 2022
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics.
De Roeck A et al.
Acta Neuropathologica, 2019
Rare ABCA7 variants in 2 German families with Alzheimer disease.
May P et al.
Neurology. Genetics, 2018
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
De Roeck A et al.
Acta Neuropathologica, 2017
ABCA7 loss-of-function variants, expression, and neurologic disease risk.
Allen M et al.
Neurology. Genetics, 2017
Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study.
Cuyvers E et al.
The Lancet. Neurology, 2015
An Indian Young-onset Dementia With Parkinsonism With Double Heterozygous Mutations in ABCA7 and PRKN Identified Through Whole-exome Sequencing.
Sadhukhan D et al.
Alzheimer Disease and Associated Disorders, 0
Input of exome sequencing in early-onset cerebral amyloid angiopathy.
Grangeon L et al.
Alzheimer's & Dementia (amsterdam, Netherlands), 0