Associated Papers
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 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
Progranulin and GPNMB: interactions in endo-lysosome function and inflammation in neurodegenerative disease.
Gillett DA et al.
Journal of Neuroinflammation, 2023
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 2022
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
Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations.
Licata A et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020
Precision medicine of frontotemporal dementia: from genotype to phenotype.
Che XQ et al.
Frontiers in Bioscience (landmark Edition), 2018
Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.
Hosokawa M et al.
Scientific Reports, 2017
Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin.
Kleinberger G et al.
Neurobiology of Aging, 2016
Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.
Schulte EC et al.
European Journal of Human Genetics : Ejhg, 2015
Progranulin reduction is associated with increased tau phosphorylation in P301L tau transgenic mice.
Hosokawa M et al.
Journal of Neuropathology and Experimental Neurology, 2015
Mechanisms of granulin deficiency: lessons from cellular and animal models.
Kleinberger G et al.
Molecular Neurobiology, 2013
Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.
Ferrari R et al.
Journal of Molecular Neuroscience : Mn, 2011
Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease.
Fenoglio C et al.
Journal of Alzheimer's Disease : Jad, 2009
Novel exon 1 progranulin gene variant in Alzheimer's disease.
Cortini F et al.
European Journal of Neurology, 2008