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C9orf72 dipeptides trigger neuroinflammation via the NLRP3 inflammasome.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.075812
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- Article
C9orf72 dipeptides disrupt the nucleocytoplasmic transport machinery and cause TDP-43 mislocalisation to the cytoplasm.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-08724-w
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- Article
Co-expression of C9orf72 related dipeptide-repeats over 1000 repeat units reveals age- and combination-specific phenotypic profiles in Drosophila.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01028-y
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- Article
Extracellular Vesicles Isolated from Human Induced Pluripotent Stem Cell-Derived Neurons Contain a Transcriptional Network.
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- Neurochemical Research, 2020, v. 45, n. 7, p. 1711, doi. 10.1007/s11064-020-03019-w
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- Article
The cellular expression and proteolytic processing of the amyloid precursor protein is independent of TDP-43.
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- Bioscience Reports, 2020, v. 40, n. 4, p. 1, doi. 10.1042/BSR20200435
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- Article
Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model.
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- Human Molecular Genetics, 2018, v. 27, n. 10, p. 1754, doi. 10.1093/hmg/ddy083
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- Article
C9ORF72 DIPEPTIDE REPEAT PROTEINS DISRUPT NUCLEOCYTOPLASMIC TRANSPORT.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P242, doi. 10.1016/j.jalz.2017.06.091
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- Article
C9ORF72 DIPEPTIDE REPEAT PROTEINS DISRUPT NUCLEOCYTOPLASMIC TRANSPORT.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P320, doi. 10.1016/j.jalz.2017.06.023
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- Publication type:
- Article
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.
- Published in:
- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0454-4
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- Article
Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene.
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- Acta Neuropathologica Communications, 2017, v. 5, p. 12, doi. 10.1186/s40478-017-0437-5
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- Article
Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5069, doi. 10.1093/hmg/ddw327
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- Article
Identification of biological pathways regulated by PGRN and GRN peptide treatments using transcriptome analysis.
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- European Journal of Neuroscience, 2016, v. 44, n. 5, p. 2214, doi. 10.1111/ejn.13297
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- Article
Pathological tau deposition in Motor Neurone Disease and frontotemporal lobar degeneration associated with TDP-43 proteinopathy.
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- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0301-z
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- Publication type:
- Article
Is SIGMAR1 a confirmed FTD/MND gene?
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- 2015
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- Publication type:
- commentary
Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene.
- Published in:
- Neuropathology & Applied Neurobiology, 2015, v. 41, n. 5, p. 601, doi. 10.1111/nan.12178
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- Article
Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.
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- Acta Neuropathologica, 2015, v. 130, n. 1, p. 63, doi. 10.1007/s00401-015-1429-9
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- Article
Histone deacetylases ( HDACs) in frontotemporal lobar degeneration.
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- Neuropathology & Applied Neurobiology, 2015, v. 41, n. 2, p. 245, doi. 10.1111/nan.12153
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- Article
No interaction between tau and TDP-43 pathologies in either frontotemporal lobar degeneration or motor neurone disease.
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- Neuropathology & Applied Neurobiology, 2014, v. 40, n. 7, p. 844, doi. 10.1111/nan.12155
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- Article
Patterns of microglial cell activation in frontotemporal lobar degeneration.
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- Neuropathology & Applied Neurobiology, 2014, v. 40, n. 6, p. 686, doi. 10.1111/nan.12092
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- Article
Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.
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- Movement Disorders, 2014, v. 29, n. 2, p. 245, doi. 10.1002/mds.25732
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- Article
A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies.
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- JAMA Neurology, 2013, v. 70, n. 6, p. 727, doi. 10.1001/jamaneurol.2013.1925
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- Article
FTLD repeat expansions in C9orf72: Evidence for variability in the repeat sequence
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- 2012
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- Publication type:
- Abstract
Semantic dementia associated with corticobasal syndrome: a further variant of frontotemporal lobe degeneration?
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- 2012
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- Publication type:
- Letter
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 3, p. 693, doi. 10.1093/brain/awr355
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- Article
TDP-43 pathological changes in early onset familial and sporadic Alzheimer's disease, late onset Alzheimer's disease and Down's Syndrome: association with age, hippocampal sclerosis and clinical phenotype.
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- Acta Neuropathologica, 2011, v. 122, n. 6, p. 703, doi. 10.1007/s00401-011-0879-y
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- Publication type:
- Article
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.
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- Acta Neuropathologica, 2011, v. 122, n. 1, p. 99, doi. 10.1007/s00401-011-0816-0
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- Article
Pathological correlates of frontotemporal lobar degeneration in the elderly.
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- Acta Neuropathologica, 2011, v. 121, n. 3, p. 365, doi. 10.1007/s00401-010-0765-z
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- Publication type:
- Article
Effect of topographical distribution of α-synuclein pathology on TDP-43 accumulation in Lewy body disease.
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- Acta Neuropathologica, 2010, v. 120, n. 6, p. 789, doi. 10.1007/s00401-010-0731-9
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- Article
Genome wide association in frontotemporal lobar degeneration: A replication study
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- 2010
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- Publication type:
- Abstract
Phosphorylated TDP-43 pathology and hippocampal sclerosis in progressive supranuclear palsy.
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- Acta Neuropathologica, 2010, v. 120, n. 1, p. 55, doi. 10.1007/s00401-010-0702-1
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- Article
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
- Published in:
- Nature Genetics, 2010, v. 42, n. 3, p. 234, doi. 10.1038/ng.536
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- Article
Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration.
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- Neurogenetics, 2009, v. 10, n. 4, p. 313, doi. 10.1007/s10048-009-0189-x
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- Article
TDP-43 in ubiquitinated inclusions in the inferior olives in frontotemporal lobar degeneration and in other neurodegenerative diseases: a degenerative process distinct from normal ageing.
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- Acta Neuropathologica, 2009, v. 118, n. 3, p. 359, doi. 10.1007/s00401-009-0526-z
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- Article
Analysis of ALS6 in frontotemporal lobar degeneration
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- 2009
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- Publication type:
- Abstract
Characterization of nonsynonymous changes in progranulin
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- 2009
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- Publication type:
- Abstract
TDP-43 protein in plasma may index TDP-43 brain pathology in Alzheimer’s disease and frontotemporal lobar degeneration.
- Published in:
- Acta Neuropathologica, 2008, v. 116, n. 2, p. 141, doi. 10.1007/s00401-008-0389-8
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- Publication type:
- Article
S1-04-04: Progranulin and frontotemporal lobar degeneration
- Published in:
- 2008
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- Publication type:
- Abstract
P2-106: UBAP1 is a risk factor for frontotemporal lobar degeneration
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- 2008
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- Abstract
P3-281: A novel progranulin mutation in gene causing frontotemporal dementia in a Brazilian family
- Published in:
- 2008
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- Abstract
P3-408: Expression levels of TDP43 and PGRN in FTLD tissue
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- 2008
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- Publication type:
- Abstract
P4-253: Biochemical profiling of TDP-43 in frontotemporal lobar degeneration
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- 2008
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- Publication type:
- Abstract
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 3, p. 721, doi. 10.1093/brain/awm331
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- Publication type:
- Article
Progranulin Mediates Caspase-Dependent Cleavage of TAR DNA Binding Protein-43.
- Published in:
- Journal of Neuroscience, 2007, v. 27, n. 39, p. 10530, doi. 10.1523/JNEUROSCI.3421-07.2007
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- Publication type:
- Article
Progranulin and frontotemporal lobar degeneration.
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- Acta Neuropathologica, 2007, v. 114, n. 1, p. 39, doi. 10.1007/s00401-007-0241-6
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- Publication type:
- Article
Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43.
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- Acta Neuropathologica, 2007, v. 113, n. 5, p. 521, doi. 10.1007/s00401-006-0189-y
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- Publication type:
- Article
Apolipoprotein E ε4 Allele Frequency and Age at Onset of Alzheimer’s Disease.
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- Dementia & Geriatric Cognitive Disorders, 2006, v. 23, n. 1, p. 60, doi. 10.1159/000097038
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- Article
Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype.
- Published in:
- Acta Neuropathologica, 2006, v. 112, n. 5, p. 539, doi. 10.1007/s00401-006-0138-9
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- Publication type:
- Article
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 11, p. 3081, doi. 10.1093/brain/awl271
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- Article
Frontotemporal dementia and parkinsonism associated with the IVS1+1G→A mutation in progranulin: a clinicopathologic study.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 11, p. 3103, doi. 10.1093/brain/awl268
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- Article
Mutations in progranulin explain atypical phenotypes with variants in MAPT.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 11, p. 3124, doi. 10.1093/brain/awl289
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- Publication type:
- Article