Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion
about
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALSTau deposition drives neuropathological, inflammatory and behavioral abnormalities independently of neuronal loss in a novel mouse modelClassification of FTLD-TDP cases into pathological subtypes using antibodies against phosphorylated and non-phosphorylated TDP43.TDP-43 suppresses tau expression via promoting its mRNA instability.The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristicsSporadic inclusion body myositis: the genetic contributions to the pathogenesis.Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia.Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories.Pathological tau deposition in Motor Neurone Disease and frontotemporal lobar degeneration associated with TDP-43 proteinopathyCerebrospinal Fluid TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Patients with and without the C9ORF72 Hexanucleotide Expansion.TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia.C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and FrontotemporalC9ORF72 repeat expansions in cases with previously identified pathogenic mutations.Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALSProgressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.Hippocampal and mesial temporal sclerosis in early-onset frontotemporal lobar degeneration versus Alzheimer's disease.Mechanisms of toxicity in C9FTLD/ALS.Protein aggregation in amyotrophic lateral sclerosis.C9ORF72 mutations in neurodegenerative diseases.The neuropathology associated with repeat expansions in the C9ORF72 gene.Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy.The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.Invited review: Neuropathology of tauopathies: principles and practice.Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review.Frontotemporal Lobar Degeneration: Mechanisms and Therapeutic Strategies.Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions.Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies.Robust cytoplasmic accumulation of phosphorylated TDP-43 in transgenic models of tauopathy.In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers.Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS.Multiple neuronal pathologies are common in young patients with pathologically proven Frontotemporal lobar degeneration.Possible concurrence of TDP-43, tau and other proteins in amyotrophic lateral sclerosis/frontotemporal lobar degeneration.Amygdala TDP-43 Pathology in Frontotemporal Lobar Degeneration and Motor Neuron Disease.No interaction between tau and TDP-43 pathologies in either frontotemporal lobar degeneration or motor neurone disease.Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia.
P2860
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P2860
Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Tau pathology in frontotempora ...... exanucleotide repeat expansion
@ast
Tau pathology in frontotempora ...... exanucleotide repeat expansion
@en
type
label
Tau pathology in frontotempora ...... exanucleotide repeat expansion
@ast
Tau pathology in frontotempora ...... exanucleotide repeat expansion
@en
prefLabel
Tau pathology in frontotempora ...... exanucleotide repeat expansion
@ast
Tau pathology in frontotempora ...... exanucleotide repeat expansion
@en
P2093
P2860
P50
P1476
Tau pathology in frontotempora ...... exanucleotide repeat expansion
@en
P2093
Amanda M Liesinger
Kevin B Boylan
Matthew C Baker
Monica Castanedes-Casey
Nicola J Rutherford
P2860
P2888
P304
P356
10.1007/S00401-012-1048-7
P577
2012-09-28T00:00:00Z