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
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration.
Koriath CAM et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Clinical and neuroanatomical characterization of the semantic behavioral variant of frontotemporal dementia in a multicenter Italian cohort.
Ghirelli A et al.
Journal of Neurology, 2024
Two heterozygous progranulin mutations in progressive supranuclear palsy.
Yang W et al.
Brain : a Journal of Neurology, 2021
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
Koriath C et al.
Molecular Psychiatry, 2020
Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia.
Guven G et al.
Journal of Alzheimer's Disease : Jad, 2019
Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin.
Kleinberger G et al.
Neurobiology of Aging, 2016
Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.
Guven G et al.
Plos One, 2016
Progranulin reduction is associated with increased tau phosphorylation in P301L tau transgenic mice.
Hosokawa M et al.
Journal of Neuropathology and Experimental Neurology, 2015
Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.
Chiang HH et al.
European Journal of Human Genetics : Ejhg, 2013
Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.
Ferrari R et al.
Journal of Molecular Neuroscience : Mn, 2011
Serum biomarker for progranulin-associated frontotemporal lobar degeneration.
Sleegers K et al.
Annals of Neurology, 2009
Progranulin variability has no major role in Parkinson disease genetic etiology.
Nuytemans K et al.
Neurology, 2008