Associated Papers
Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41757160 (PubMed )
Supplement: media-1.xlsx › S2_Rare_variants
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM4_ESM.xlsx › Supplementary_Data_2
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
39606324 (PubMed )
Supplement: media-15.xlsx › Supplementary_Table_2
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
30279455 (PubMed )
Supplement: 41380_2018_224_MOESM1_ESM.docx
Association of Acquired and Heritable Factors With Intergenerational Differences in Age at Symptomatic Onset of Alzheimer Disease Between Offspring and Parents With Dementia.
Day GS et al.
Jama Network Open, 2019
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Likely_Benign
Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin.
Kleinberger G et al.
Neurobiology of Aging, 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
Promoter DNA methylation regulates progranulin expression and is altered in FTLD.
Banzhaf-Strathmann J et al.
Acta Neuropathologica Communications, 2013
Mechanisms of granulin deficiency: lessons from cellular and animal models.
Kleinberger G et al.
Molecular Neurobiology, 2013
Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.
Cruchaga C et al.
Plos One, 2012
Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.
Ferrari R et al.
Journal of Molecular Neuroscience : Mn, 2011
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