Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 18
Results: 14
Ulk2 controls cortical excitatory–inhibitory balance via autophagic regulation of p62 and GABAA receptor trafficking in pyramidal neurons.
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- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3165, doi. 10.1093/hmg/ddy219
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- Article
Transcriptomic RNAseq drug screen in cerebrocortical cultures: toward novel neurogenetic disease therapies.
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- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3206, doi. 10.1093/hmg/ddy221
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- Article
TNNT1 nemaline myopathy: natural history and therapeutic frontier.
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- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3272, doi. 10.1093/hmg/ddy233
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- Article
A tandem repeat array in IG-DMR is essential for imprinting of paternal allele at the Dlk1–Dio3 domain during embryonic development.
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- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3283, doi. 10.1093/hmg/ddy235
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- Article
Systematic Mendelian randomization framework elucidates hundreds of CpG sites which may mediate the influence of genetic variants on disease.
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- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3293, doi. 10.1093/hmg/ddy210
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- Article
Proteomic analysis reveals co-ordinated alterations in protein synthesis and degradation pathways in LRRK2 knockout mice.
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- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3257, doi. 10.1093/hmg/ddy232
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- Article
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.
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- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3233, doi. 10.1093/hmg/ddy218
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- Article
Parkin mediates the ubiquitination of VPS35 and modulates retromer-dependent endosomal sorting.
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- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3189, doi. 10.1093/hmg/ddy224
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- Article
Non-canonical role of cancer-associated mutant SEC23B in the ribosome biogenesis pathway.
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- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3154, doi. 10.1093/hmg/ddy226
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- Article
Impaired melanocortin pathway function in Prader–Willi syndrome gene-Magel2 deficient mice.
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- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3129, doi. 10.1093/hmg/ddy216
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- Article
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.
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- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3218, doi. 10.1093/hmg/ddy225
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- Article
CRB2 in immature photoreceptors determines the superior-inferior symmetry of the developing retina to maintain retinal structure and function.
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- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3137, doi. 10.1093/hmg/ddy194
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- Article
Building a schizophrenia genetic network: transcription factor 4 regulates genes involved in neuronal development and schizophrenia risk.
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- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3246, doi. 10.1093/hmg/ddy222
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- Article
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3177, doi. 10.1093/hmg/ddy220
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- Article