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
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
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 novel progranulin gene variants in Italian patients with neurodegenerative diseases.
Bartoletti-Stella A et al.
Neurobiology of Aging, 2021
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
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
Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.
Guven G et al.
Plos One, 2016
Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia.
Benussi A et al.
Frontiers in Aging Neuroscience, 2015
Progranulin regulates neuronal outgrowth independent of sortilin.
Gass J et al.
Molecular Neurodegeneration, 2012
No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort.
Del Bo R et al.
Neurobiology of Aging, 2011
FTD and ALS: a tale of two diseases.
Ferrari R et al.
Current Alzheimer Research, 2011
A thorough assessment of benign genetic variability in GRN and MAPT.
Guerreiro RJ et al.
Human Mutation, 2010
Loss of progranulin function in frontotemporal lobar degeneration.
Cruts M et al.
Trends in Genetics : Tig, 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
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes.
Schymick JC et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2007