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A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population.
- Published in:
- Human Genetics, 2005, v. 118, n. 3/4, p. 499, doi. 10.1007/s00439-005-0031-y
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- Publication type:
- Article
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules.
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- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2676, doi. 10.1093/hmg/ddt117
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- Publication type:
- Article
C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca<sup>2+</sup>-permeable AMPA receptor-mediated excitotoxicity.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02729-0
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- Article
The Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative Medicine.
- Published in:
- Stem Cells International, 2016, p. 1, doi. 10.1155/2016/9279516
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- Publication type:
- Article
Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders.
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- Acta Neuropathologica, 2011, v. 121, n. 4, p. 519, doi. 10.1007/s00401-011-0813-3
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- Publication type:
- Article
Generation of an Open-Access Patient-Derived iPSC Biobank for Amyotrophic Lateral Sclerosis Disease Modelling.
- Published in:
- Genes, 2023, v. 14, n. 5, p. 1108, doi. 10.3390/genes14051108
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- Publication type:
- Article
Expanded G4C2 repeats linked to C9ORF72 ALS and FTD form length-dependent RNA foci, sequester RNA binding proteins and are neurotoxic.
- Published in:
- 2013
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- Publication type:
- Abstract
Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem Cells.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0091269
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- Publication type:
- Article
Downregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 Mutations.
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- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076055
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- Publication type:
- Article
The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis.
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- 2016
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- Publication type:
- journal article
Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 6, p. 1763, doi. 10.1093/brain/awq111
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- Publication type:
- Article
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.
- Published in:
- Nature Neuroscience, 2011, v. 14, n. 4, p. 452, doi. 10.1038/nn.2778
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- Publication type:
- Article
C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 318, doi. 10.1093/hmg/ddaa181
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- Publication type:
- Article
C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4765, doi. 10.1093/hmg/ddx350
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- Publication type:
- Article
The Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative Medicine.
- Published in:
- Thrombosis, 2016, p. 1, doi. 10.1155/2016/9279516
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- Publication type:
- Article
Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion.
- Published in:
- Frontiers in Cellular Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fncel.2021.660693
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- Publication type:
- Article