Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22.
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Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)The genetics and neuropathology of frontotemporal lobar degenerationHeterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotypePhenotypic Heterogeneity of Monogenic Frontotemporal DementiaProgranulin: normal function and role in neurodegenerationA new family with frontotemporal dementia with intronic 10+3 splice site mutation in the tau gene: neuropathology and molecular effects.Familial frontotemporal dementia with neuronal intranuclear inclusions is not a polyglutamine expansion disease.HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulinProtein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ContinuumRs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease.Myogenic differentiation of VCP disease-induced pluripotent stem cells: A novel platform for drug discoveryGenetics and biology of Alzheimer's disease and frontotemporal lobar degenerationOrganizing a Series of Education and Support Conferences for Caregivers of Individuals With Frontotemporal Dementia and Primary Progressive Aphasia.Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.Clinical phenotypes and genetic biomarkers of FTLD.Characteristics of frontotemporal dementia patients with a Progranulin mutation.Hereditary frontotemporal dementia caused by Tau gene mutations.Prominent phenotypic variability associated with mutations in ProgranulinMapping the onset and progression of atrophy in familial frontotemporal lobar degeneration.Young onset dementiaPathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies.Motor neuron disease group accompanied by inclusions of unidentified protein signaled by ubiquitin.Global gene profiling of VCP-associated inclusion body myopathy.Clinical and molecular aspects of frontotemporal dementia.Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update.A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK seriesParietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin geneUpdate on recent molecular and genetic advances in frontotemporal lobar degeneration.FTD and ALS: a tale of two diseasesMolecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia.TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation.Frontotemporal lobar degeneration: current knowledge and future challenges.Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation.Comparative quantitative study of 'signature' pathological lesions in the hippocampus and adjacent gyri of 12 neurodegenerative disorders.Mutant valosin-containing protein causes a novel type of frontotemporal dementia.Tau protein in frontotemporal dementia linked to chromosome 3 (FTD-3).The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo.Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval.A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.
P2860
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P2860
Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Familial frontotemporal dement ...... linked to chromosome 17q21-22.
@en
Familial frontotemporal dement ...... linked to chromosome 17q21-22.
@nl
type
label
Familial frontotemporal dement ...... linked to chromosome 17q21-22.
@en
Familial frontotemporal dement ...... linked to chromosome 17q21-22.
@nl
prefLabel
Familial frontotemporal dement ...... linked to chromosome 17q21-22.
@en
Familial frontotemporal dement ...... linked to chromosome 17q21-22.
@nl
P2093
P356
P1433
P1476
Familial frontotemporal dement ...... linked to chromosome 17q21-22.
@en
P2093
Kamphorst W
Niermeijer MF
Spillantini MG
Willemsen R
de Graaf B
P304
P356
10.1093/BRAIN/124.10.1948
P407
P577
2001-10-01T00:00:00Z