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1701
Visual impairment in aging and cognitive decline: experience in a Memory Clinic
Published 2019-06-01“…The final sample of 1746 study participants aged ≥ 50 comprised 229 individuals with Subjective Cognitive Decline (SCD), 695 with mild cognitive impairment (MCI) and 833 with Dementia (Alzheimer disease: n = 660; vascular dementia: n = 92, Lewy body dementia: n = 34; frontotemporal dementia: n = 19 and other: n = 28). Age, gender and education were used as covariates. …”
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1702
Genetic and clinical analysis of TP73 gene in amyotrophic lateral sclerosis patients from Chinese mainland
Published 2023-02-01“…Association analysis revealed that rare TP73 variants in the untranslated regions (UTRs) were enriched among ALS patients; meanwhile, two common variants in the exon-intron boundary were discovered to be associated with ALS.DiscussionWe demonstrate that TP73 variations also have contributed to ALS in the Asian population and broaden the genotypic and phenotypic spectrum of TP73 variants in the ALS-frontotemporal dementia (FTD) spectrum. Furthermore, our findings first suggest that TP73 is not only a causative gene, but also exerts a disease-modifying effect. …”
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1703
Formation of Filamentous Tau Aggregations in Transgenic Mice Expressing V337M Human Tau
Published 2001-12-01“…These mice contain a tau gene with a mutation of the frontotemporal dementia parkinsonism (FTDP-17) type, in which valine is substituted with methionine residue 337. …”
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1704
Neuropsychiatric profiles and conversion to dementia in mild cognitive impairment, a latent class analysis
Published 2021-03-01“…Irritability class appeared as the most discriminant neuropsychiatric condition to identify non-AD converters (i.e., frontotemporal dementia, vascular dementia, Parkinson’s disease and dementia with Lewy Bodies). …”
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1705
C9orf72 poly(PR) aggregation in nucleus induces ALS/FTD-related neurodegeneration in cynomolgus monkeys
Published 2023-08-01“…It is one of the translational product of expanded G4C2 repeats in the C9orf72 gene, and its accumulation is contributing to the neuropathogenesis of C9orf72-associated amyotrophic lateral sclerosis and/or frontotemporal dementia (C9-ALS/FTD). In this study, we demonstrate that poly(PR) protein alone is sufficient to induce neurodegeneration related to ALS/FTD in cynomolgus monkeys. …”
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1706
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies
Published 2020-01-01“…We analyzed variants in 60 genes implicated in DLB, Alzheimer’s disease, Parkinson’s disease, frontotemporal dementia, and atypical parkinsonian or dementia disorders, in order to determine their frequency in DLB. …”
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1707
Behavioral and Psychological Effects of Coronavirus Disease-19 Quarantine in Patients With Dementia
Published 2020-09-01“…A structured telephone interview was delivered to family caregivers of patients with diagnosis of Alzheimer disease (AD), dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), and vascular dementia (VD), followed regularly at 87 Italian memory clinics. …”
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1708
Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease
Published 2023-04-01“…We also demonstrated that the overall genetic architecture of brain amyloidosis overlaps with that of AD, Frontotemporal Dementia, stroke, and brain structure-related complex human traits. …”
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1709
Combining single-molecule manipulation and peptide nucleic acid binding studies for unraveling how RNA structures regulate ribosomal frameshifting and alternative splicing
Published 2019“…Our work suggests that both stem 1 and stem 2 stabilities in a pseudoknot structure are important for stimulating ribosomal frameshifting. Project 3. Frontotemporal dementia with Parkinsonism linked to chromosome-17 (FTDP-17) is caused by mutations in the microtubule-associated protein tau (MAPT) gene. …”
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1710
The European Reference Network for Rare Neurological Diseases
Published 2021-01-01“…It covers the following disease groups: (i) Cerebellar Ataxias and Hereditary Spastic Paraplegias; (ii) Huntington's disease and Other Choreas; (iii) Frontotemporal dementia; (iv) Dystonia, (non-epileptic) paroxysmal disorders, and Neurodegeneration with Brain Iron Accumulation; (v) Leukoencephalopathies; and (vi) Atypical Parkinsonian Syndromes. …”
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1711
The Impact of COVID-19 Quarantine on Patients With Dementia and Family Caregivers: A Nation-Wide Survey
Published 2021-01-01“…Patients with Alzheimer’s Disease (AD), Dementia with Lewy Bodies (DLB), Frontotemporal Dementia (FTD), and Vascular Dementia (VD) were eligible for the study. …”
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1712
A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies
Published 2019-11-01“…Keywords: tau, MAPT, fibroblasts, induced pluripotent stem cells, neural progenitor cells, tauopathy, frontotemporal dementia, progressive supranuclear palsy, corticobasal degeneration, CRISPR/Cas9…”
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1713
Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data
Published 2022-12-01“…In 10% or more, a family history of ALS or frontotemporal dementia is obtained, and the Mendelian genes responsible for ALS in such families have now been identified in about 50% of cases. …”
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1714
White matter hyperintensities are seen only in GRN mutation carriers in the GENFI cohort
Published 2017-01-01“…Genetic frontotemporal dementia is most commonly caused by mutations in the progranulin (GRN), microtubule-associated protein tau (MAPT) and chromosome 9 open reading frame 72 (C9orf72) genes. …”
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1715
Etiologies and risk factors for dementia
Published 2016-01-01“…The pathological hallmark of Lewy body dementia is the presence of α-synuclein neuronal inclusions, also known as Lewy bodies, accompanied by neuronal loss. Frontotemporal dementias are characterized by abnormal deposits of the microtubule-associated protein tau, the trans-activation response TAR DNA-binding protein with molecular weight 43 kDa (TDP-43), and the fused in sarcoma protein. …”
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1716
Genetic architecture of common non-Alzheimer’s disease dementias
Published 2020-08-01“…Frontotemporal dementia (FTD), dementia with Lewy bodies (DLB) and vascular dementia (VaD) are the most common forms of dementia after Alzheimer's disease (AD). …”
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1717
Circulating cell-free microRNA as biomarkers for screening, diagnosis and monitoring of neurodegenerative diseases and other neurologic pathologies
Published 2013-09-01“…Many neurodegenerative diseases, such as Alzheimer’s disease, Parkinson disease, vascular and frontotemporal dementias, as well as other chronic neurological pathologies, are characterized by slow development with a long asymptomatic period followed by a stage with mild clinical symptoms. …”
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1718
The importance of tau phosphorylation for neurodegenerative diseases
Published 2013-07-01“…Fibrillar deposits of highly phosphorylated tau are a key pathological feature of several neurodegenerative tauopathies including Alzheimer’s disease and some frontotemporal dementias. Increasing evidence suggests that the presence of these end-stage neurofibrillary lesions do not cause neuronal loss, but rather that alterations to soluble tau proteins induce neurodegeneration. …”
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1719
Bilingualism for Dementia: Neurological Mechanisms Associated With Functional and Structural Changes in the Brain
Published 2019-11-01“…As the number of older adults increases, the prevalence of dementias, such as Alzheimer’s dementia (AD), vascular dementia, dementia with Lewy bodies, and frontotemporal dementias, also increases. Despite research into pharmacological approaches for treating diverse diseases, there is still no cure. …”
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1720
Transcranial magnetic stimulation in patients with early cortical dementia: A pilot study
Published 2013-01-01“…Considering the properties of default mode networking of the brain it is highly probable that specific changes may be seen in frontotemporal dementias (FTDs) and Alzheimer′s disease sufficiently early. …”
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