Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 12
Results: 15
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.
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- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2187, doi. 10.1093/hmg/ddy127
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- Article
Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.
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- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2171, doi. 10.1093/hmg/ddy126
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- Article
Excess LINC complexes impair brain morphogenesis in a mouse model of recessive TOR1A disease.
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- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2154, doi. 10.1093/hmg/ddy125
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- Article
NAFLD risk alleles in PNPLA3, TM6SF2, GCKR and LYPLAL1 show divergent metabolic effects.
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- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2214, doi. 10.1093/hmg/ddy124
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- Article
A new mouse model of ARX dup24 recapitulates the patients behavioral and fine motor alterations.
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- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2138, doi. 10.1093/hmg/ddy122
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- Article
A whole brain longitudinal study in the YAC128 mouse model of Huntington's disease shows distinct trajectories of neurochemical, structural connectivity and volumetric changes.
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- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2125, doi. 10.1093/hmg/ddy119
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- Article
Metabolomic studies identify changes in transmethylation and polyamine metabolism in a brain-specific mouse model of tuberous sclerosis complex.
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- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2113, doi. 10.1093/hmg/ddy118
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- Article
High-content screen for modifiers of Niemann-Pick type C disease in patient cells.
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- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2101, doi. 10.1093/hmg/ddy117
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- Article
Variable rescue of microtubule and physiological phenotypes in mdx muscle expressing different miniaturized dystrophins.
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- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2090, doi. 10.1093/hmg/ddy113
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- Article
Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention.
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- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2076, doi. 10.1093/hmg/ddy112
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- Article
Genome-wide association analyses identify new loci influencing intraocular pressure.
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- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2205, doi. 10.1093/hmg/ddy111
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- Article
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.
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- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2064, doi. 10.1093/hmg/ddy110
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- Article
The antidepressant tianeptine reverts synaptic AMPA receptor defects caused by deficiency of CDKL5.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2052, doi. 10.1093/hmg/ddy108
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- Article
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
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- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2224, doi. 10.1093/hmg/ddy072
- Publication type:
- Article
Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2039, doi. 10.1093/hmg/ddy099
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- Article