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_MOESM3_ESM.xlsx › Supplementary_Data_1
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-14.xlsx › Supplementary_Table_1
Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.
Bartoletti-Stella A et al.
Neurobiology of Aging, 2021
Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.
Oluwole OG et al.
Bmc Medical Genetics, 2020
32019516 (PubMed )
Supplement: 12881_2020_953_MOESM8_ESM.xlsx › Variants_identified_in_PD_genes
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets
Next Generation Sequencing Analysis in Early Onset Dementia Patients.
Bonvicini C et al.
Journal of Alzheimer's Disease : Jad, 2019
Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.
Ibanez L et al.
Frontiers in Neuroscience, 2018
29692703 (PubMed )
Supplement: Table3.DOCX
Mechanisms of granulin deficiency: lessons from cellular and animal models.
Kleinberger G et al.
Molecular Neurobiology, 2013
The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.
Benitez BA et al.
Plos Genetics, 2013
Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.
Ferrari R et al.
Journal of Molecular Neuroscience : Mn, 2011
A thorough assessment of benign genetic variability in GRN and MAPT.
Guerreiro RJ et al.
Human Mutation, 2010
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Yu CE et al.
Archives of Neurology, 2010
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members.
Finch N et al.
Brain : a Journal of Neurology, 2009
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