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Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference.
- Published in:
- Journal of Gene Medicine, 2012, v. 14, n. 8, p. 521, doi. 10.1002/jgm.2649
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- Publication type:
- Article
Transcriptome-wide RNA binding analysis of C9orf72 poly(PR) dipeptides.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 9, p. 1, doi. 10.26508/lsa.202201824
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- Publication type:
- Article
Toxicity of C9orf72-associated dipeptide repeat peptides is modified by commonly used protein tags.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 9, p. 1, doi. 10.26508/lsa.202201739
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- Publication type:
- Article
Quantitative analysis of cryptic splicing associated with TDP-43 depletion.
- Published in:
- BMC Medical Genomics, 2017, v. 10, p. 1, doi. 10.1186/s12920-017-0274-1
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- Publication type:
- Article
G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome.
- Published in:
- FEBS Letters, 2015, v. 589, n. 14, p. 1653, doi. 10.1016/j.febslet.2015.05.003
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- Publication type:
- Article
Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease.
- Published in:
- Journal of Cell Biology, 2007, v. 179, n. 3, p. 485, doi. 10.1083/jcb.200702115
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- Publication type:
- Article
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2228
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- Publication type:
- Article
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 313, doi. 10.1093/hmg/ddm309
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- Publication type:
- Article
SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits.
- Published in:
- Nature Communications, 2017, v. 8, n. 7, p. 16063, doi. 10.1038/ncomms16063
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- Publication type:
- Article
Opinion: more mouse models and more translation needed for ALS.
- Published in:
- Molecular Neurodegeneration, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13024-023-00619-2
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- Publication type:
- Article
Failure of C9orf72 sense repeat-targeting antisense oligonucleotides: lessons learned and the path forward.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2607, doi. 10.1093/brain/awae168
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- Publication type:
- Article
Frontotemporal dementia causative CHMP2B impairs neuronal endolysosomal traffic-rescue by TMEM106B knockdown.
- Published in:
- 2018
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- Publication type:
- journal article
The snowball effect of RNA binding protein dysfunction in amyotrophic lateral sclerosis.
- Published in:
- 2018
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- Publication type:
- journal article
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.
- Published in:
- 2017
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- Publication type:
- journal article
G<sub>2</sub>C<sub>4</sub> targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons.
- Published in:
- Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-023-02652-3
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- Publication type:
- Article
Symmetric dimethylation of poly-GR correlates with disease duration in C9orf72 FTLD and ALS and reduces poly-GR phase separation and toxicity.
- Published in:
- Acta Neuropathologica, 2020, v. 139, n. 2, p. 407, doi. 10.1007/s00401-019-02104-x
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- Publication type:
- Article
C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A.
- Published in:
- Acta Neuropathologica, 2019, v. 137, n. 3, p. 487, doi. 10.1007/s00401-018-1946-4
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- Publication type:
- Article
A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.
- Published in:
- Acta Neuropathologica, 2018, v. 135, n. 3, p. 427, doi. 10.1007/s00401-017-1796-5
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- Publication type:
- Article
Sense and antisense RNA are not toxic in <italic>Drosophila</italic> models of <italic>C9orf72</italic>-associated ALS/FTD.
- Published in:
- Acta Neuropathologica, 2018, v. 135, n. 3, p. 445, doi. 10.1007/s00401-017-1798-3
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- Publication type:
- Article
A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.
- Published in:
- 2015
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- Publication type:
- Letter
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.
- Published in:
- Acta Neuropathologica, 2015, v. 130, n. 4, p. 511, doi. 10.1007/s00401-015-1475-3
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- Publication type:
- Article
<i>C9orf72</i> frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 6, p. 845, doi. 10.1007/s00401-013-1200-z
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- Publication type:
- Article
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 3, p. 401, doi. 10.1007/s00401-013-1147-0
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- Publication type:
- Article
Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene.
- Published in:
- 2009
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- Publication type:
- Letter
Humoral response to neurofilaments and dipeptide repeats in ALS progression.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 9, p. 1831, doi. 10.1002/acn3.51428
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- Publication type:
- Article
Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01036-y
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- Publication type:
- Article
Glycine-alanine dipeptide repeats spread rapidly in a repeat length- and age-dependent manner in the fly brain.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. 1, doi. 10.1186/s40478-019-0860-x
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- Publication type:
- Article
Enhanced insulin signalling ameliorates C9orf72 hexanucleotide repeat expansion toxicity in Drosophila.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.58565
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- Publication type:
- Article
Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster.
- Published in:
- G3: Genes | Genomes | Genetics, 2016, v. 6, n. 5, p. 1427, doi. 10.1534/g3.116.027060
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- Publication type:
- Article
Specific biomarkers for C9orf72 FTD/ ALS could expedite the journey towards effective therapies.
- Published in:
- EMBO Molecular Medicine, 2017, v. 9, n. 7, p. 853, doi. 10.15252/emmm.201707848
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- Publication type:
- Article
Regulation of Postsynaptic Function by the Dementia-Related ESCRT-III Subunit CHMP2B.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 7, p. 3155, doi. 10.1523/JNEUROSCI.0586-14.2015
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- Publication type:
- Article
Haploinsufficiency of progranulin causes impairments in PINK/PARKIN mitophagy: Molecular and cell biology/TDP‐43.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.042104
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- Publication type:
- Article
SCREENING FOR MODIFIERS OF C9ORF72 HEXANUCLEOTIDE REPEAT EXPANSION TOXICITY IN DROSOPHILA.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P992, doi. 10.1016/j.jalz.2017.06.1361
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- Publication type:
- Article
TARGETING G4C2 G-QUADRUPLEXES IN C9ORF72 FTD/ALS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1444, doi. 10.1016/j.jalz.2017.07.474
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- Publication type:
- Article
SHIFT IN CEREBRAL PET GLUCOSE METABOLISM IN FRONTOTEMPORAL DEMENTIA LINKED TO CHROMOSOME 3 (FTD-3) FROM THE PRESYMPTOMATIC TO SYMTOMATIC STAGE.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P1090, doi. 10.1016/j.jalz.2016.06.2276
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- Publication type:
- Article
Neuropsychological Profiles In Five Subjects With Preclinical FTD-3
- Published in:
- 2011
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- Publication type:
- Abstract
Changes in cerebral glucose metabolism in early symptomatic frontotemporal dementia linked to chromosome 3 (FTD-3)
- Published in:
- 2011
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- Publication type:
- Abstract
Changes in cerebral blood flow in presymptomatic mutation Carriers of Familial Frontotemporal Dementia (FTD-3), Measured with MRI
- Published in:
- 2010
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- Publication type:
- Abstract
P2-186: Accelerated cortical thinning in FTD-3 CHMP2B mutation carriers
- Published in:
- 2008
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- Publication type:
- Abstract
P2-183: Generalised brain atrophy predates symptom onset in frontotemporal dementia caused by CHMP2B mutation
- Published in:
- 2008
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- Publication type:
- Abstract
IC-P3-187: Accelerated cortical thinning in FTD-3 CHMP2B mutation carriers
- Published in:
- 2008
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- Publication type:
- Abstract
IC-P3-162: Generalised brain atrophy predates symptom onset in frontotemporal dementia caused by CHMP2B mutation
- Published in:
- 2008
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- Publication type:
- Abstract
P3-155: Mutation in the endosomal ESCRT111-complex in frontotemporal dementia
- Published in:
- 2006
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- Publication type:
- Abstract
P3-155: Mutation in the endosomal ESCRT111-complex in frontotemporal dementia
- Published in:
- 2006
- By:
- Publication type:
- Abstract
TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander.
- Published in:
- Mammalian Genome, 2008, v. 19, n. 5, p. 299, doi. 10.1007/s00335-008-9117-x
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- Publication type:
- Article
Repeat length of C9orf72-associated glycine–alanine polypeptides affects their toxicity.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01634-6
- By:
- Publication type:
- Article
Evolution of the Aging Brain Transcriptome and Synaptic Regulation.
- Published in:
- PLoS ONE, 2008, v. 3, n. 10, p. 1, doi. 10.1371/journal.pone.0003329
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- Publication type:
- Article
Dysregulation in Subcellular Localization of Myelin Basic Protein mRNA Does Not Result in Altered Myelination in Amyotrophic Lateral Sclerosis.
- Published in:
- Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.705306
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- Publication type:
- Article
Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration.
- Published in:
- Neuropathology & Applied Neurobiology, 2014, v. 40, n. 6, p. 778, doi. 10.1111/nan.12144
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- Publication type:
- Article
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
- Published in:
- Nature, 1998, v. 393, n. 6686, p. 702, doi. 10.1038/31508
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- Publication type:
- Article