Found: 10
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VAP: a versatile aggregate profiler for efficient genome-wide data representation and discovery.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. W1, p. W485, doi. 10.1093/nar/gku302
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- Publication type:
- Article
PReMod: a database of genome-wide mammalian cis-regulatory module predictions.
- Published in:
- Nucleic Acids Research, 2007, v. 35, p. d122, doi. 10.1093/nar/gkl879
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- Publication type:
- Article
Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 7, p. 857, doi. 10.3390/biom14070857
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- Publication type:
- Article
The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis.
- Published in:
- Molecular Brain, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13041-019-0479-7
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- Publication type:
- Article
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.
- Published in:
- Molecular Brain, 2017, v. 10, p. 1, doi. 10.1186/s13041-017-0294-y
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- Publication type:
- Article
R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein.
- Published in:
- Nature Communications, 2017, v. 8, n. 5, p. 15615, doi. 10.1038/ncomms15615
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- Article
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
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- Nature Communications, 2015, v. 6, n. 7, p. 7623, doi. 10.1038/ncomms8623
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- Publication type:
- Article
Structural and functional characterization of the IgSF21-neurexin2a complex and its related signaling pathways in the regulation of inhibitory synapse organization.
- Published in:
- Frontiers in Molecular Neuroscience, 2024, p. 1, doi. 10.3389/fnmol.2024.1371145
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- Publication type:
- Article
The 37TrillionCells initiative for improving global healthcare via cell-based interception and precision medicine: focus on neurodegenerative diseases.
- Published in:
- Molecular Brain, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13041-024-01088-4
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- Publication type:
- Article
Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H.
- Published in:
- Molecular Brain, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13041-022-00974-z
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- Publication type:
- Article