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Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice.
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- Journal of Neuroscience, 2010, v. 30, n. 32, p. 10851, doi. 10.1523/JNEUROSCI.1630-10.2010
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- Publication type:
- Article
Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1467, doi. 10.1093/hmg/ddt534
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- Publication type:
- Article
Acetylation of the KXGS motifs in tau is a critical determinant in modulation of tau aggregation and clearance.
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- Human Molecular Genetics, 2014, v. 23, n. 1, p. 104, doi. 10.1093/hmg/ddt402
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- Publication type:
- Article
The dual functions of the extreme N-terminus of TDP-43 in regulating its biological activity and inclusion formation.
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- Human Molecular Genetics, 2013, v. 22, n. 15, p. 3112, doi. 10.1093/hmg/ddt166
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- Publication type:
- Article
Loss of HDAC6, a novel CHIP substrate, alleviates abnormal tau accumulation.
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- Human Molecular Genetics, 2012, v. 21, n. 13, p. 2936, doi. 10.1093/hmg/dds125
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- Publication type:
- Article
Ribonuclease recruitment using a small molecule reduced c9ALS/FTD r(G<sub>4</sub>C<sub>2</sub>) repeat expansion in vitro and in vivo ALS models.
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- Science Translational Medicine, 2021, v. 13, n. 617, p. 1, doi. 10.1126/scitranslmed.abd5991
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- Publication type:
- Article
Serum neurofilament light protein correlates with unfavorable clinical outcomes in hospitalized patients with COVID-19.
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- Science Translational Medicine, 2021, v. 13, n. 602, p. 1, doi. 10.1126/scitranslmed.abi7643
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- Publication type:
- Article
Plasma neurofilament light predicts mortality in patients with stroke.
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- Science Translational Medicine, 2020, v. 12, n. 569, p. 1, doi. 10.1126/scitranslmed.aay1913
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- Publication type:
- Article
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.
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- Science Translational Medicine, 2020, v. 12, n. 566, p. 1, doi. 10.1126/scitranslmed.abb7086
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- Publication type:
- Article
C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy.
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- Science Translational Medicine, 2020, v. 12, n. 559, p. 1, doi. 10.1126/scitranslmed.abb3774
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- Publication type:
- Article
Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.
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- Science Translational Medicine, 2017, v. 9, n. 383, p. 1, doi. 10.1126/scitranslmed.aai7866
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- Publication type:
- Article
Fluid biomarkers for amyotrophic lateral sclerosis: a review.
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- Molecular Neurodegeneration, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13024-023-00685-6
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- Publication type:
- Article
Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases.
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- 2021
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- Publication type:
- journal article
Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia.
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- 2016
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- Publication type:
- journal article
Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis.
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- 2017
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- Publication type:
- journal article
Does Obesity-Induced τ Phosphorylation Tip the Scale Toward Dementia?
- Published in:
- 2013
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- Publication type:
- Opinion
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion.
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- Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-024-02720-2
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- Publication type:
- Article
Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains.
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- Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-023-02671-0
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- Publication type:
- Article
A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.
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- Acta Neuropathologica, 2018, v. 135, n. 3, p. 427, doi. 10.1007/s00401-017-1796-5
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- Publication type:
- Article
Antisense transcripts of the expanded <i>C9ORF72</i> hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS.
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- Acta Neuropathologica, 2013, v. 126, n. 6, p. 829, doi. 10.1007/s00401-013-1192-8
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- Publication type:
- Article
Reduced <i>C9orf72</i> gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood.
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- Acta Neuropathologica, 2013, v. 126, n. 6, p. 895, doi. 10.1007/s00401-013-1199-1
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- Publication type:
- Article
Poly(GP), neurofilament and grey matter deficits in <italic>C9orf72</italic> expansion carriers.
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- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 5, p. 583, doi. 10.1002/acn3.559
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- Publication type:
- Article
Generation and characterization of monoclonal antibodies against pathologically phosphorylated TDP-43.
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- PLoS ONE, 2024, v. 19, n. 4, p. 1, doi. 10.1371/journal.pone.0298080
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- Publication type:
- Article
A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD.
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- Molecular Neurodegeneration, 2017, v. 12, p. 1, doi. 10.1186/s13024-017-0185-9
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- Publication type:
- Article
Phosphorylation regulates proteasomal-mediated degradation and solubility of TAR DNA binding protein-43 C-terminal fragments.
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- Molecular Neurodegeneration, 2010, v. 5, p. 33, doi. 10.1186/1750-1326-5-33
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- Publication type:
- Article
The role of tau in neurodegeneration.
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- Molecular Neurodegeneration, 2009, v. 4, p. 1, doi. 10.1186/1750-1326-4-13
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- Publication type:
- Article
Cover Image, Volume 177B, Number 1, January 2018.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. i, doi. 10.1002/ajmg.b.32617
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- Publication type:
- Article
OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. 75, doi. 10.1002/ajmg.b.32606
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- Publication type:
- Article
POLY-GP DIPEPTIDE REPEATS AND NEUROFILAMENT LIGHT CHAIN AS BIOMARKERS IN PRESYMPTOMATIC AND SYMPTOMATIC FRONTOTEMPORAL DEMENTIA CAUSED BY C9ORF72 REPEAT EXPANSIONS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1228, doi. 10.1016/j.jalz.2017.07.425
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- Publication type:
- Article
Targeting the glycine-rich domain of TDP-43 with antibodies prevents its aggregation in vitro and reduces neurofilament levels in vivo.
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- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01592-z
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- Publication type:
- Article
Evidence of cerebellar TDP-43 loss of function in FTLD-TDP.
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- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01408-6
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- Publication type:
- Article
A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26303-x
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- Publication type:
- Article
CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33332-7
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- Publication type:
- Article
Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers.
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- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0797-0
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- Publication type:
- Article
Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72 -related brain disease.
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- Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0564-7
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- Publication type:
- Article
Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of <italic>C9ORF72</italic>-repeat induced toxicity.
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- Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0545-x
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- Publication type:
- Article
Association of Physical Activity With Neurofilament Light Chain Trajectories in Autosomal Dominant Frontotemporal Lobar Degeneration Variant Carriers.
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- JAMA Neurology, 2023, v. 80, n. 1, p. 82, doi. 10.1001/jamaneurol.2022.4178
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- Publication type:
- Article
Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD.
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- Molecular Neurodegeneration, 2020, v. 15, n. 1, p. 1, doi. 10.1186/s13024-020-00365-9
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- Publication type:
- Article
Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy.
- Published in:
- Molecular Neurodegeneration, 2019, v. 14, n. 1, p. N.PAG, doi. 10.1186/s13024-019-0310-z
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- Publication type:
- Article
Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease.
- Published in:
- Molecular Neurodegeneration, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13024-018-0274-4
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- Publication type:
- Article
Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit.
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- Neurology & Therapy, 2023, v. 12, n. 6, p. 1821, doi. 10.1007/s40120-023-00548-8
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- Publication type:
- Article
Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-13477-8
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- Publication type:
- Article
Immunological drivers of amyotrophic lateral sclerosis.
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- Science Translational Medicine, 2023, v. 15, n. 721, p. 1, doi. 10.1126/scitranslmed.adj9332
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- Publication type:
- Article
Autophagic-lysosomal perturbation enhances tau aggregation in transfectants with induced wild-type tau expression.
- Published in:
- European Journal of Neuroscience, 2008, v. 27, n. 5, p. 1119, doi. 10.1111/j.1460-9568.2008.06084.x
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- Publication type:
- Article
An alternative Ca<sup>2+</sup>-dependent mechanism of neuroprotection by the metalloporphyrin class of superoxide dismutase mimetics.
- Published in:
- FASEB Journal, 2005, v. 19, n. 12, p. 1734, doi. 10.1096/fj.05-3795fje
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- Publication type:
- Article
Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.
- Published in:
- Nature Neuroscience, 2015, v. 18, n. 8, p. 1175, doi. 10.1038/nn.4065
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- Publication type:
- Article
Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 17, p. 3421, doi. 10.1093/hmg/ddx233
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- Publication type:
- Article
Alterations of mesenchymal stromal cells in cerebrospinal fluid: insights from transcriptomics and an ALS clinical trial.
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- Stem Cell Research & Therapy, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13287-021-02241-9
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- Publication type:
- Article
TDP-1, the Caenorhabditis elegans ortholog of TDP-43, limits the accumulation of double-stranded RNA.
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- EMBO Journal, 2014, v. 33, n. 24, p. 2947, doi. 10.15252/embj.201488740
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- Publication type:
- Article
Global platform trial design for tau (MAPT) mutation carriers.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.078640
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- Publication type:
- Article