Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 15
Results: 18
Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3192, doi. 10.1093/hmg/ddw168
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- Article
A transgenic mouse expressing CHMP2B<sup>intron5</sup> mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3341, doi. 10.1093/hmg/ddw182
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- Article
Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3284, doi. 10.1093/hmg/ddw178
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- Article
Intergenic GWAS SNPs are key components of the spatial and regulatory network for human growth.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3372, doi. 10.1093/hmg/ddw165
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- Article
FANCD2 limits BLM-dependent telomere instability in the alternative lengthening of telomeres pathway.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3255, doi. 10.1093/hmg/ddw175
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- Article
Sustained AMPK activation improves muscle function in a mitochondrial myopathy mouse model by promoting muscle fiber regeneration.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3178, doi. 10.1093/hmg/ddw167
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- Article
MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female rats.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3303, doi. 10.1093/hmg/ddw179
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- Article
a.iPSC-derived LewisX+CXCR4+β1-integrin + neural stem cells improve the amyotrophic lateral sclerosis phenotype by preserving motor neurons and muscle innervation in human and rodent models.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3152, doi. 10.1093/hmg/ddw163
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- Article
Improved imputation accuracy in Hispanic/Latino populations with larger and more diverse reference panels: applications in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL).
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3245, doi. 10.1093/hmg/ddw174
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- Article
Long-range regulators of the lncRNA HOT AIR enhance its prognostic potential in breast cancer.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3269, doi. 10.1093/hmg/ddw177
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- Article
Loss of Magel2 impairs the development of hypothalamic Anorexigenic circuits.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3208, doi. 10.1093/hmg/ddw169
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- Article
A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3164, doi. 10.1093/hmg/ddw166
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- Article
The unconventional secretion of ARMS2.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3143, doi. 10.1093/hmg/ddw162
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- Article
Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3393, doi. 10.1093/hmg/ddw181
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- Article
Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3361, doi. 10.1093/hmg/ddw164
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- Article
Functional links between SQSTM1 and ALS2 in the pathogenesis of ALS: cumulative impact on the protection against mutant SOD1-mediated motor dysfunction in mice.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3321, doi. 10.1093/hmg/ddw180
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- Article
Cyclooxygenase-2 deficiency impairs muscle-derived stem cell-mediated bone regeneration via cellular autonomous and non-autonomous mechanisms.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3216, doi. 10.1093/hmg/ddw172
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- Article
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.
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- Human Molecular Genetics, 2016, v. 25, n. 15, p. 3232, doi. 10.1093/hmg/ddw173
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- Article