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Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
- Published in:
- Human Genetics, 2019, v. 138, n. 6, p. 593, doi. 10.1007/s00439-019-02000-0
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- Publication type:
- Article
ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.
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- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0179369
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- Publication type:
- Article
Distinct repertoires of microRNAs present in mouse astrocytes compared to astrocyte-secreted exosomes.
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- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0171418
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- Publication type:
- Article
Prime Time for α-Synuclein. .
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- Journal of Neuroscience, 2007, v. 27, n. 10, p. 2433, doi. 10.1523/JNEUROSCI.0094-07.2007
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- Publication type:
- Article
A versatile system to record cell-cell interactions.
- Published in:
- eLife, 2020, p. 1, doi. 10.7554/eLife.61080
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- Publication type:
- Article
A matter of balance.
- Published in:
- eLife, 2018, p. 1, doi. 10.7554/eLife.37754
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- Publication type:
- Article
Regrowing axons with alternative splicing.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.18707
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- Publication type:
- Article
It's all starting to come together.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.09853
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- Publication type:
- Article
A memory of eS25 loss drives resistance phenotypes.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 13, p. 7279, doi. 10.1093/nar/gkaa444
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- Publication type:
- Article
Knockout of reactive astrocyte activating factors slows disease progression in an ALS mouse model.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17514-9
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- Publication type:
- Article
Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.
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- Nature Neuroscience, 2015, v. 18, n. 9, p. 1226, doi. 10.1038/nn.4085
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- Publication type:
- Article
Exome sequencing to identify de novo mutations in sporadic ALS trios.
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- Nature Neuroscience, 2013, v. 16, n. 7, p. 851, doi. 10.1038/nn.3412
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- Publication type:
- Article
TDP-43 and FUS/TLS yield a target-rich haul in ALS.
- Published in:
- Nature Neuroscience, 2012, v. 15, n. 11, p. 1467, doi. 10.1038/nn.3243
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- Publication type:
- Article
The material properties of a bacterial-derived biomolecular condensate tune biological function in natural and synthetic systems.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33221-z
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- Publication type:
- Article
Nuclear transport dysfunction: a common theme in amyotrophic lateral sclerosis and frontotemporal dementia.
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- Journal of Neurochemistry, 2016, v. 138, p. 134, doi. 10.1111/jnc.13642
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- Publication type:
- Article
Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.
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- Journal of Molecular Medicine, 2018, v. 96, n. 7, p. 701, doi. 10.1007/s00109-018-1655-4
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- Publication type:
- Article
LRRK2 modifies α-syn pathology and spread in mouse models and human neurons.
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- Acta Neuropathologica, 2019, v. 137, n. 6, p. 961, doi. 10.1007/s00401-019-01995-0
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- Publication type:
- Article
Beer and Bread to Brains and Beyond: Can Yeast Cells Teach Us about Neurodegenerative Disease?
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- NeuroSignals (Karger AG), 2008, v. 16, n. 1, p. 52, doi. 10.1159/000109759
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- Publication type:
- Article
Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders.
- Published in:
- Biomedicines, 2022, v. 10, n. 1, p. 160, doi. 10.3390/biomedicines10010160
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- Publication type:
- Article
Targeted Exon Capture and Sequencing in Sporadic Amyotrophic Lateral Sclerosis.
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- PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004704
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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
HDGFL2 cryptic proteins report presence of TDP-43 pathology in neurodegenerative diseases.
- Published in:
- Molecular Neurodegeneration, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13024-024-00718-8
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- Publication type:
- Article
Correction: HDGFL2 cryptic proteins report presence of TDP-43 pathology in neurodegenerative diseases.
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- 2024
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- Publication type:
- Correction Notice
HDGFL2 cryptic proteins report presence of TDP-43 pathology in neurodegenerative diseases.
- Published in:
- Molecular Neurodegeneration, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13024-024-00718-8
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- Publication type:
- Article
Analysis of COPII Vesicles Indicates a Role for the Emp47-Ssp120 Complex in Transport of Cell Surface Glycoproteins.
- Published in:
- Traffic, 2016, v. 17, n. 3, p. 191, doi. 10.1111/tra.12356
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- Publication type:
- Article
Fragile X protein mitigates TDP-43 toxicity by remodeling RNA granules and restoring translation.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 24, p. 6886, doi. 10.1093/hmg/ddv389
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- Publication type:
- Article
The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of α-synuclein, and enhances its secretion and nuclear localization in cells.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 17, p. 4491, doi. 10.1093/hmg/ddu165
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- Publication type:
- Article
Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 9, p. 1697, doi. 10.1093/hmg/ddr045
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- Publication type:
- Article
The Role of the Parkinson's Disease Gene PARK9 in Essential Cellular Pathways and the Manganese Homeostasis Network in Yeast.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0034178
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- Publication type:
- Article
PolyQ Repeat Expansions in ATXN2 Associated with ALS Are CAA Interrupted Repeats.
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- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017951
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- Publication type:
- Article
Profilin 1 Associates with Stress Granules and ALS-Linked Mutations Alter Stress Granule Dynamics.
- Published in:
- Journal of Neuroscience, 2014, v. 34, n. 24, p. 8083, doi. 10.1523/JNEUROSCI.0543-14.2014
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- Publication type:
- Article
Kinetic Analysis of npBAF to nBAF Switching Reveals Exchange of SSI8 with CREST and Integration with Neural Developmental Pathways.
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- Journal of Neuroscience, 2013, v. 33, n. 25, p. 10348, doi. 10.1523/JNEUROSCI.1258-13.2013
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- Publication type:
- Article
ALS-Associated Ataxin 2 PolyQ Expansions Enhance Stress-Induced Caspase 3 Activation and Increase TDP-43 Pathological Modifications.
- Published in:
- Journal of Neuroscience, 2012, v. 32, n. 27, p. 9133, doi. 10.1523/JNEUROSCI.0996-12.2012
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- Publication type:
- Article
Local RNA Translation at the Synapse and in Disease.
- Published in:
- Journal of Neuroscience, 2011, v. 31, n. 45, p. 16086, doi. 10.1523/JNEUROSCI.4105-11.2011
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- Publication type:
- Article
P1‐135: RARE MISSENSE VARIANTS ON ZNF679 AND CTD‐3214H19.16 SEGREGATE IN A FAMILY WITH A HISTORY OF SYNUCLEINOPATHY.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P324, doi. 10.1016/j.jalz.2018.06.138
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- Article
NOVEL MISSENSE VARIANT ON EPHA1 IN A PROTECTED APOE4 FAMILY.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P643, doi. 10.1016/j.jalz.2017.06.745
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- Publication type:
- Article
CELLULAR MECHANISMS OF FRONTOTEMPORAL LOBAR DEGENERATION (FTLD).
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1451, doi. 10.1016/j.jalz.2017.07.504
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- Publication type:
- Article
IDENTIFICATION OF AN ITGA7 VARIANT ASSOCIATED WITH ALZHEIMER’S DISEASE AND MULTIPLE OTHER NEURODEGENERATIVE DISEASES.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P193, doi. 10.1016/j.jalz.2017.07.050
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- Publication type:
- Article
α-Synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity.
- Published in:
- Nature Genetics, 2009, v. 41, n. 3, p. 308, doi. 10.1038/ng.300
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- Publication type:
- Article
Bridging high-throughput genetic and transcriptional data reveals cellular responses to alpha-synuclein toxicity.
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- Nature Genetics, 2009, v. 41, n. 3, p. 316, doi. 10.1038/ng.337
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- Publication type:
- Article
Nf1 has an essential role in endothelial cells.
- Published in:
- Nature Genetics, 2003, v. 33, n. 1, p. 75, doi. 10.1038/ng1059
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- Publication type:
- Article
GTPase Activity Plays a Key Role in the Pathobiology of LRRK2.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 4, p. 1, doi. 10.1371/journal.pgen.1000902
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- Publication type:
- Article
Frontotemporal lobar degeneration targets brain regions linked to expression of recently evolved genes.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 9, p. 3032, doi. 10.1093/brain/awae205
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- Publication type:
- Article
In search of lost trafficking.
- Published in:
- 2018
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- Publication type:
- journal article
Hunting the G-unit in Huntington's.
- Published in:
- 2018
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- Publication type:
- journal article
A suite of Gateway<sup>®</sup> cloning vectors for high-throughput genetic analysis in Saccharomyces cerevisiae.
- Published in:
- Yeast, 2007, v. 24, n. 10, p. 913, doi. 10.1002/yea.1502
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- Publication type:
- Article
Therapeutic modulation of eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models.
- Published in:
- Nature Genetics, 2014, v. 46, n. 2, p. 152, doi. 10.1038/ng.2853
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- Publication type:
- Article
Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models.
- Published in:
- Nature Genetics, 2012, v. 44, n. 12, p. 1302, doi. 10.1038/ng.2434
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- Publication type:
- Article
Molecular Determinants and Genetic Modifiers of Aggregation and Toxicity for the ALS Disease Protein FUS/TLS.
- Published in:
- PLoS Biology, 2011, v. 9, n. 4, p. 1, doi. 10.1371/journal.pbio.1000614
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- Publication type:
- Article
Discovery and characterization of three novel synuclein genes in zebrafish.
- Published in:
- Developmental Dynamics, 2008, v. 237, n. 9, p. 2490, doi. 10.1002/dvdy.21569
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- Publication type:
- Article