Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6
Missense mutations of the ephrin receptor EPHA1 associated with Alzheimer's disease disrupt receptor signaling functions.
Matsumoto M et al.
The Journal of Biological Chemistry, 2025
Alzheimer's disease-associated P460L variant of EphA1 dysregulates receptor activity and blood-brain barrier function.
Owens HA et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
Effects of Eph/ephrin signalling and human Alzheimer's disease-associated EphA1 on Drosophila behaviour and neurophysiology.
Buhl E et al.
Neurobiology of Disease, 2022
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
Khani M et al.
Molecular Neurodegeneration, 2022
How understudied populations have contributed to our understanding of Alzheimer's disease genetics.
Dehghani N et al.
Brain : a Journal of Neurology, 2021
New Insights into the Molecular Bases of Familial Alzheimer's Disease.
D'Argenio V et al.
Journal of Personalized Medicine, 2020
Whole-Exome Sequencing of an Exceptional Longevity Cohort.
Nygaard HB et al.
The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2019
ABCA7 p.G215S as potential protective factor for Alzheimer's disease.
Sassi C et al.
Neurobiology of Aging, 2016
Genetic variations underlying Alzheimer's disease: evidence from genome-wide association studies and beyond.
Cuyvers E et al.
The Lancet. Neurology, 2016
Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.
Vardarajan BN et al.
Annals of Neurology, 2015
Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest.
Lam L et al.
Heartrhythm Case Reports, 2015
28491533 (PubMed )
Supplement: mmc1.docx
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