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
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
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
Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia.
Almeida MR et al.
International Journal of Molecular Sciences, 2023
Rare exonic variant affects GRN splicing and contributes to frontotemporal lobar degeneration.
Wauters E et al.
Neurobiology of Aging, 2023
GRN Missense Variants and Familial Alzheimer's Disease: Two Case Reports.
Ingannato A et al.
Journal of Alzheimer's Disease : Jad, 2023
Progranulin mutations in clinical and neuropathological Alzheimer's disease.
Vardarajan BN et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Mutation Analysis of the Genes Linked to Early Onset Alzheimer's Disease and Frontotemporal Lobar Degeneration.
Luukkainen L 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
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E et al.
Scientific Reports, 2017
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 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
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
Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.
Chiang HH et al.
European Journal of Human Genetics : Ejhg, 2013
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
Screening for progranulin mutations by serum protein dosage in common neurodegenerative disorders.
Rodríguez-Rodríguez E et al.
Parkinsonism & Related Disorders, 2013
The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.
Benitez BA et al.
Plos Genetics, 2013
DLB and PDD: a role for mutations in dementia and Parkinson disease genes?
Meeus B et al.
Neurobiology of Aging, 2012
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
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
Clinical and pathological continuum of multisystem TDP-43 proteinopathies.
Geser F et al.
Archives of Neurology, 2009
Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration.
Krüger J et al.
European Journal of Neurology, 2009
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia.
Mukherjee O et al.
Human Mutation, 2008
Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN).
Boeve BF et al.
Archives 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
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.
Le Ber I et al.
Brain : a Journal of Neurology, 2008
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.
van der Zee J et al.
Human Mutation, 2007
Clinicopathologic features of frontotemporal dementia with progranulin sequence variation.
Spina S et al.
Neurology, 2007
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Gass J et al.
Human Molecular Genetics, 2006
Novel progranulin mutation detected in 2 patients with FTLD.
Skoglund L et al.
Alzheimer Disease and Associated Disorders, 0