Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. - Wikidata - awgldk - TriplyDB

Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene.

Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene.

http://www.wikidata.org/entity/Q38435579

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RNA helicase p68 (DDX5) regulates tau exon 10 splicing by modulating a stem-loop structure at the 5' splice site Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging Closing the tau loop: the missing tau mutation.An update on semantic dementia: genetics, imaging, and pathology Tau deposition drives neuropathological, inflammatory and behavioral abnormalities independently of neuronal loss in a novel mouse model Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72 An algorithm for genetic testing of frontotemporal lobar degeneration Progress in the last decade in our understanding of primary progressive aphasia.Hereditary frontotemporal dementia caused by Tau gene mutations.Cortical neuronal and glial pathology in TgTauP301L transgenic mice: neuronal degeneration, memory disturbance, and phenotypic variation.Chromosome 9 ALS and FTD locus is probably derived from a single founder Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT The apolipoprotein E epsilon4 allele selectively increases the risk of frontotemporal lobar degeneration in males.Tau alternative splicing and frontotemporal dementia.Neurotrophic effects of progranulin in vivo in reversing motor neuron defects caused by over or under expression of TDP-43 or FUS.Frontotemporal lobar degeneration: current concepts in the light of recent advances.What determines the molecular composition of abnormal protein aggregates in neurodegenerative disease?Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration.PSF suppresses tau exon 10 inclusion by interacting with a stem-loop structure downstream of exon 10.Globular Glial Tauopathy Presenting as Semantic Variant Primary Progressive Aphasia.Neuropathological background of phenotypical variability in frontotemporal dementia.Neuroimaging in frontotemporal lobar degeneration--predicting molecular pathology.Repetitive and stereotypic phenomena and dementia.Cellular factors modulating the mechanism of tau protein aggregation.Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration.Frontotemporal lobar degeneration: Pathogenesis, pathology and pathways to phenotype.Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations.Presymptomatic semantic impairment in a case of fronto-temporal lobar degeneration associated with the +16 mutation in MAPT.The neuropathology of frontotemporal lobar degeneration with respect to the cytological and biochemical characteristics of tau protein.Familial semantic dementia with P301L mutation in the Tau gene.The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene.Parkinsonism, movement disorders and genetics in frontotemporal dementia.Synaptic changes in frontotemporal lobar degeneration: correlation with MAPT haplotype and APOE genotype.Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation.Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease.Neurotransmitter deficits from frontotemporal lobar degeneration.Phenotypic presentation of frontotemporal dementia with Parkinsonism-chromosome 17 type P301S in a patient of Jewish-Algerian origin.

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P2860

Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene.

http://www.wikidata.org/entity/Q38435579

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Inherited frontotemporal demen ...... nic mutations in the tau gene.

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Inherited frontotemporal demen ...... nic mutations in the tau gene.

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Inherited frontotemporal demen ...... onic mutations in the tau gene

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A Burns

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A M McDonagh

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A M T Richardson

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D Craufurd

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D M A Mann

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D Neary

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J Hardy

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J S Snowden

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M Baker

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M Hutton

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P2860

Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene.

Apolipoprotein E epsilon4 allele has no effect on age at onset or duration of disease in cases of frontotemporal dementia with pick- or microvacuolar-type histology.

Dementia of frontal lobe type.

Semantic dementia. Progressive fluent aphasia with temporal lobe atrophy.

Phenotypic correlations in FTDP-17.

High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands

Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements

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scholarly article

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10.1093/BRAIN/AWF069

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Pt 4

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125

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Stuart Pickering-Brown

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2002-04-01T00:00:00Z

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11452556

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11912108

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