Associated Papers
Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients.
Ganoza CA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Targeting Granulin Haploinsufficiency in Frontotemporal Dementia: From Genetic Mechanisms to Therapeutics.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2025
Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia.
Almeida MR et al.
International Journal of Molecular Sciences, 2023
Progranulin Gene Mutations in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review.
Chu M et al.
Journal of Alzheimer's Disease : Jad, 2023
Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy.
Huin V et al.
Brain : a Journal of Neurology, 2021
Two heterozygous progranulin mutations in progressive supranuclear palsy.
Yang W et al.
Brain : a Journal of Neurology, 2021
Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.
Sassi C et al.
Scientific Reports, 2021
Genetics of Progressive Supranuclear Palsy: A Review.
Wen Y et al.
Journal of Parkinson's Disease, 2021
Clinical and Neuroimaging Aspects of Familial Frontotemporal Lobar Degeneration Associated with MAPT and GRN Mutations.
Boeve BF et al.
Advances in Experimental Medicine and Biology, 2021
Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol.
Mega A et al.
Alzheimer's Research & Therapy, 2020
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.
Moore KM et al.
The Lancet. Neurology, 2020
The Rise of the GRN C157KfsX97 Mutation in Southern Italy: Going Back to the Fall of the Western Roman Empire.
Coppola C et al.
Journal of Alzheimer's Disease : Jad, 2020
Monozygotic Twins with Frontotemporal Dementia Due To Thr272fs GRN Mutation Discordant for Age At Onset.
Fumagalli GG et al.
Journal of Alzheimer's Disease : Jad, 2019
Progranulin as a therapeutic target for dementia.
Galimberti D et al.
Expert Opinion on Therapeutic Targets, 2018
Genotype-phenotype links in frontotemporal lobar degeneration.
Van Mossevelde S et al.
Nature Reviews. Neurology, 2018
Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study.
Galimberti D et al.
Neurobiology of Aging, 2018
Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.
Fenoglio C et al.
Journal of Alzheimer's Disease : Jad, 2018
A cluster of progranulin C157KfsX97 mutations in Southern Italy: clinical characterization and genetic correlations.
Coppola C et al.
Neurobiology of Aging, 2017
Impaired long-term potentiation-like cortical plasticity in presymptomatic genetic frontotemporal dementia.
Benussi A et al.
Annals of Neurology, 2016
Plasma Screening for Progranulin Mutations in Patients with Progressive Supranuclear Palsy and Corticobasal Syndromes.
Galimberti D et al.
Journal of Alzheimer's Disease : Jad, 2016
Inflammatory molecules in Frontotemporal Dementia: cerebrospinal fluid signature of progranulin mutation carriers.
Galimberti D et al.
Brain, Behavior, and Immunity, 2015
The patterns of inheritance in early-onset dementia: Alzheimer's disease and frontotemporal dementia.
Jarmolowicz AI et al.
American Journal of Alzheimer's Disease and Other Dementias, 2015
Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.
Rohrer JD et al.
The Lancet. Neurology, 2015
Profiling of ubiquitination pathway genes in peripheral cells from patients with frontotemporal dementia due to C9ORF72 and GRN mutations.
Serpente M et al.
International Journal of Molecular Sciences, 2015
Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia.
Benussi A et al.
Frontiers in Aging Neuroscience, 2015
Progranulin gene variability influences the risk for bipolar I disorder, but not bipolar II disorder.
Galimberti D et al.
Bipolar Disorders, 2014
Results from a pilot study on amiodarone administration in monogenic frontotemporal dementia with granulin mutation.
Alberici A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2014
Understanding phenotype variability in frontotemporal lobar degeneration due to granulin mutation.
Bonvicini C et al.
Neurobiology of Aging, 2014
Effect of TMEM106B polymorphism on functional network connectivity in asymptomatic GRN mutation carriers.
Premi E et al.
Jama Neurology, 2014
Subcortical and Deep Cortical Atrophy in Frontotemporal Dementia due to Granulin Mutations.
Premi E et al.
Dementia and Geriatric Cognitive Disorders Extra, 2014
A mutation in the 5'-UTR of GRN gene associated with frontotemporal lobar degeneration: phenotypic variability and possible pathogenetic mechanisms.
Puoti G et al.
Journal of Alzheimer's Disease : Jad, 2014
Multimodal FMRI resting-state functional connectivity in granulin mutations: the case of fronto-parietal dementia.
Premi E et al.
Plos One, 2014
Molecular signature of disease onset in granulin mutation carriers: a gene expression analysis study.
Milanesi E et al.
Neurobiology of Aging, 2013
Structural brain signature of FTLD driven by Granulin mutation.
Bozzali M et al.
Journal of Alzheimer's Disease : Jad, 2013
GRN Thr272fs clinical heterogeneity: a case with atypical late onset presenting with a dementia with Lewy bodies phenotype.
Arosio B et al.
Journal of Alzheimer's Disease : Jad, 2013
Frontotemporal lobar degeneration: current knowledge and future challenges.
Cerami C et al.
Journal of Neurology, 2012
Granulin mutation drives brain damage and reorganization from preclinical to symptomatic FTLD.
Borroni B et al.
Neurobiology of Aging, 2012
Prevalence of frontotemporal lobar degeneration in an isolated population: the Vallecamonica study.
Gilberti N et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2012
Clinical phenotypes and genetic biomarkers of FTLD.
Galimberti D et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2012
Genetics of frontotemporal lobar degeneration.
Galimberti D et al.
Frontiers in Neurology, 2012
Progressive supranuclear palsy-like phenotype caused by progranulin p.Thr272fs mutation.
Tremolizzo L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2011
Founder effect and estimation of the age of the Progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration.
Borroni B et al.
Neurobiology of Aging, 2011
BAG1 is a protective factor for sporadic frontotemporal lobar degeneration but not for Alzheimer's disease.
Venturelli E et al.
Journal of Alzheimer's Disease : Jad, 2011
Cerebrospinal fluid biomarkers in Progranulin mutations carriers.
Carecchio M et al.
Journal of Alzheimer's Disease : Jad, 2011
From genotype to phenotype: two cases of genetic frontotemporal lobar degeneration with premorbid bipolar disorder.
Cerami C et al.
Journal of Alzheimer's Disease : Jad, 2011
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
Gijselinck I et al.
Human Mutation, 2008
Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia: The IT-DIAfN Protocol.
Galluzzi S et al.
Alzheimer Disease and Associated Disorders, 0