Associated Papers
Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.
Acosta-Uribe J et al.
Npj Dementia, 2026
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
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Cogan G et al.
Brain : a Journal of Neurology, 2025
Targeting Granulin Haploinsufficiency in Frontotemporal Dementia: From Genetic Mechanisms to Therapeutics.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2025
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J et al.
Research Square, 2025
Disparate and shared transcriptomic signatures associated with cortical atrophy in genetic behavioral variant frontotemporal degeneration.
Shen T et al.
Molecular Neurodegeneration, 2025
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetic spectrum features and diagnostic accuracy of four plasma biomarkers in 248 Chinese patients with frontotemporal dementia.
Xu T et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
GRN mutation spectrum and genotype-phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort.
Liu C et al.
Journal of Medical Genetics, 2024
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
Silvaieh S et al.
Human Genomics, 2023
Levodopa responsive asymmetric parkinsonism as clinical presentation of progranulin gene mutation.
Biagioli N et al.
Journal of the Neurological Sciences, 2023
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
Silvaieh S et al.
Human Genomics, 2023
Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations.
Davis SE et al.
Acta Neuropathologica Communications, 2023
[18F]RO948 tau positron emission tomography in genetic and sporadic frontotemporal dementia syndromes.
Santillo AF et al.
European Journal of Nuclear Medicine and Molecular Imaging, 2023
Astroglial toxicity promotes synaptic degeneration in the thalamocortical circuit in frontotemporal dementia with GRN mutations.
Marsan E et al.
The Journal of Clinical Investigation, 2023
Plasma Small Extracellular Vesicles with Complement Alterations in GRN/C9orf72 and Sporadic Frontotemporal Lobar Degeneration.
Bellini S et al.
Cells, 2022
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
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
Koriath C et al.
Molecular Psychiatry, 2020
Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants.
Staffaroni AM et al.
Jama Network Open, 2020
Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations.
Licata A et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Ramos EM et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020
Autosomal Dominant Frontotemporal Lobar Degeneration in a Filipino Family with Progranulin Mutation.
Dominguez J et al.
Dementia and Geriatric Cognitive Disorders, 2020
Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism.
Götzl JK et al.
Embo Molecular Medicine, 2019
Genetic analysis of neurodegenerative diseases in a pathology cohort.
Blauwendraat C et al.
Neurobiology of Aging, 2019
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.
Blauwendraat C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Precision medicine of frontotemporal dementia: from genotype to phenotype.
Che XQ et al.
Frontiers in Bioscience (landmark Edition), 2018
Novel GRN Mutations in Alzheimer's Disease and Frontotemporal Lobar Degeneration.
Piaceri I et al.
Journal of Alzheimer's Disease : Jad, 2018
Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts.
Steele NZ et al.
Advances in Genomics and Genetics, 2018
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.
Fernández MV et al.
Plos Genetics, 2017
Evaluating pathogenic dementia variants in posterior cortical atrophy.
Carrasquillo MM et al.
Neurobiology of Aging, 2016
Posterior cortical atrophy as an extreme phenotype of GRN mutations.
Caroppo P et al.
Jama Neurology, 2015
TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia.
Nicholson AM et al.
Journal of Neurochemistry, 2013
Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis.
Irwin DJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
Progranulin axis and recent developments in frontotemporal lobar degeneration.
Nicholson AM et al.
Alzheimer's Research & Therapy, 2012
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
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.
Chen-Plotkin AS et al.
Archives of Neurology, 2011
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Yu CE et al.
Archives of Neurology, 2010
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
Gijselinck I et al.
Human Mutation, 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
Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy.
Li XY et al.
Alzheimer Disease and Associated Disorders, 0
Frontotemporal Dementia in Russia: Genetic Structure, Phenotypic Diversity, and Diagnostic Biomarkers.
Shpilyukova YA et al.
Basic and Clinical Neuroscience, 0