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
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
A novel c.1468 G > A GRN mutation causes frontotemporal dementia in a Chinese Han family.
Xia M et al.
European Journal of Medical Research, 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
GiOPARK Project: The Genetic Study of Parkinson's Disease in the Croatian Population.
Rački V et al.
Genes, 2024
Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.
Mesaros M et al.
Genes, 2021
Precision medicine of frontotemporal dementia: from genotype to phenotype.
Che XQ et al.
Frontiers in Bioscience (landmark Edition), 2018
Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg.
Redaelli V et al.
Brain Pathology (zurich, Switzerland), 2018
Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.
Ibanez L et al.
Frontiers in Neuroscience, 2018
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
Exome sequencing in dementia with Lewy bodies.
Keogh MJ et al.
Translational Psychiatry, 2016
Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features.
Karch CM et al.
Neurobiology of Aging, 2016
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.
Krüger S et al.
Frontiers in Molecular Neuroscience, 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
Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.
Sassi C et al.
Neurobiology of Aging, 2014
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 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
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Yu CE et al.
Archives of Neurology, 2010
Serum biomarker for progranulin-associated frontotemporal lobar degeneration.
Sleegers K et al.
Annals of Neurology, 2009
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
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.
Pickering-Brown SM et al.
Brain : a Journal of Neurology, 2008
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.
Beck J et al.
Brain : a Journal of Neurology, 2008
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Gass J et al.
Human Molecular Genetics, 2006