Associated Papers
Genetics of Frontotemporal Dementia in the Serbian Population: Findings from a Hospital-Based Cohort.
Milošević V et al.
Neurology International, 2025
Clinical profile, atrophy and inheritance patterns of pathogenic MAPT gene mutations in Frontotemporal dementia detected using whole exome sequencing: a single-center first report from India.
Ramakrishnan S et al.
Bmc Neurology, 2025
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
Structural and functional connectivity in tau mutation carriers: from presymptomatic to symptomatic frontotemporal dementia.
Bouzigues A et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025
ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.
Meng Y et al.
European Journal of Neurology, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Clinical characteristics of semantic variant of primary progressive aphasia with TDP-43- and tau-related gene variants.
Ma Y et al.
Journal of Alzheimer's Disease : Jad, 2025
MAPT mutation-induced behavioral variant frontotemporal dementia in an Asian patient: a multimodal biomarker case report resolving diagnostic challenges with Alzheimer's disease.
Zhang Y et al.
Frontiers in Genetics, 2025
Cellular and pathological functions of tau.
Parra Bravo C et al.
Nature Reviews. Molecular Cell Biology, 2024
Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.
Chatterjee M et al.
Nature Medicine, 2024
Network Connectivity Alterations across the MAPT Mutation Clinical Spectrum.
Zhang L et al.
Annals of Neurology, 2023
Diffuse argyrophilic grain disease with TDP-43 proteinopathy and neuronal intermediate filament inclusion disease: FTLD with mixed tau, TDP-43 and FUS pathologies.
Koga S et al.
Acta Neuropathologica Communications, 2023
Case report of a patient with unclassified tauopathy with molecular and neuropathological features of both progressive supranuclear palsy and corticobasal degeneration.
Koga S et al.
Acta Neuropathologica Communications, 2023
Contribution of A-to-I RNA editing, M6A RNA Methylation, and Alternative Splicing to physiological brain aging and neurodegenerative diseases.
Tassinari V et al.
Mechanisms of Ageing and Development, 2023
Genetics of Multiple System Atrophy and Progressive Supranuclear Palsy: A Systemized Review of the Literature.
Bougea A
International Journal of Molecular Sciences, 2023
The New Zealand Genetic Frontotemporal Dementia Study (FTDGeNZ): a longitudinal study of pre-symptomatic biomarkers.
Ryan B et al.
Journal of the Royal Society of New Zealand, 2023
Recapitulation of endogenous 4R tau expression and formation of insoluble tau in directly reprogrammed human neurons.
Capano LS et al.
Cell Stem Cell, 2022
Elevated 4R-tau in astrocytes from asymptomatic carriers of the MAPT 10+16 intronic mutation.
Setó-Salvia N et al.
Journal of Cellular and Molecular Medicine, 2022
A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene.
Olszewska DA et al.
Neurobiology of Aging, 2021
Plasma phosphorylated tau 217 and phosphorylated tau 181 as biomarkers in Alzheimer's disease and frontotemporal lobar degeneration: a retrospective diagnostic performance study.
Thijssen EH et al.
The Lancet. Neurology, 2021
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Gao D et al.
Nature Communications, 2021
Non-invasive and high-throughput interrogation of exon-specific isoform expression.
Truong DJ et al.
Nature Cell Biology, 2021
Brain volumetric deficits in MAPT mutation carriers: a multisite study.
Chu SA et al.
Annals of Clinical and Translational Neurology, 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
Human Induced Pluripotent Stem Cell Models of Frontotemporal Dementia With Tau Pathology.
Kühn R et al.
Frontiers in Cell and Developmental Biology, 2021
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
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
Globular glial tauopathy caused by MAPT P301T mutation: clinical and neuropathological findings.
Erro ME et al.
Journal of Neurology, 2019
Cognitive Indicators of Preclinical Behavioral Variant Frontotemporal Dementia in MAPT Carriers.
Cheran G et al.
Journal of the International Neuropsychological Society : Jins, 2019
Tau Mutations as a Novel Risk Factor for Cancer-Response.
Rossi G et al.
Cancer Research, 2018
Genetically Engineered iPSC-Derived FTDP-17 MAPT Neurons Display Mutation-Specific Neurodegenerative and Neurodevelopmental Phenotypes.
Verheyen A et al.
Stem Cell Reports, 2018
Tau Mutations Serve as a Novel Risk Factor for Cancer.
Rossi G et al.
Cancer Research, 2018
Predominant subcortical accumulation of 18F-flortaucipir binding in behavioral variant frontotemporal dementia.
Cho H et al.
Neurobiology of Aging, 2018
Psychiatric symptoms in preclinical behavioural-variant frontotemporal dementia in MAPT mutation carriers.
Cheran G et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Closing the tau loop: the missing tau mutation.
McCarthy A et al.
Brain : a Journal of Neurology, 2015
Genetics of familial and sporadic Alzheimer's disease.
Piaceri I et al.
Frontiers in Bioscience (elite Edition), 2013