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
Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia.
Almeida MR et al.
International Journal of Molecular Sciences, 2023
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
Precision medicine of frontotemporal dementia: from genotype to phenotype.
Che XQ et al.
Frontiers in Bioscience (landmark Edition), 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
Screening for progranulin mutations by serum protein dosage in common neurodegenerative disorders.
Rodríguez-Rodríguez E et al.
Parkinsonism & Related Disorders, 2013
Mechanisms of granulin deficiency: lessons from cellular and animal models.
Kleinberger G et al.
Molecular Neurobiology, 2013
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Yu CE et al.
Archives of Neurology, 2010
Clinical and pathological continuum of multisystem TDP-43 proteinopathies.
Geser F et al.
Archives of Neurology, 2009
Progranulin null mutations in both sporadic and familial frontotemporal dementia.
Le Ber I et al.
Human Mutation, 2007
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.
van der Zee J et al.
Human Mutation, 2007
Progranulin mutations in Dutch familial frontotemporal lobar degeneration.
Bronner IF et al.
European Journal of Human Genetics : Ejhg, 2007
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Gass J et al.
Human Molecular Genetics, 2006