Associated Papers
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
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
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2024
Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia.
Ng ASL et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.
Qin W et al.
Human Molecular Genetics, 2021
The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics.
De Roeck A et al.
Acta Neuropathologica, 2019
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
ABCA7 loss-of-function variants, expression, and neurologic disease risk.
Allen M et al.
Neurology. Genetics, 2017
Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation.
Van den Bossche T et al.
Neurology, 2016
Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants.
Nuytemans K et al.
Neurology. Genetics, 2016
Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study.
Cuyvers E et al.
The Lancet. Neurology, 2015