Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 13
Results: 26
Identification of ter94, Drosophila VCP, as a strong modulator of motor neuron degeneration induced by knockdown of Caz, Drosophila FUS.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3467, doi. 10.1093/hmg/ddu055
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- Article
Contents Page.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. NP, doi. 10.1093/hmg/ddu292
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- Article
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3362
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Early and progressive circadian abnormalities in Huntington's disease sheep are unmasked by social environment.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3375, doi. 10.1093/hmg/ddu047
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- Article
Editorial Board.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. NP, doi. 10.1093/hmg/ddu294
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- Article
Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3481, doi. 10.1093/hmg/ddu056
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- Article
Pten haploinsufficient mice show broad brain overgrowth but selective impairments in autism-relevant behavioral tests.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3490, doi. 10.1093/hmg/ddu057
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- Article
Validation of genome-wide association study (GWAS)-identified disease risk alleles with patient-specific stem cell lines.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3445, doi. 10.1093/hmg/ddu053
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- Article
Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3618, doi. 10.1093/hmg/ddu072
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- Article
Paeoniflorin eliminates a mutant AR via NF-YA-dependent proteolysis in spinal and bulbar muscular atrophy.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3552, doi. 10.1093/hmg/ddu066
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- Article
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3566, doi. 10.1093/hmg/ddu067
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- Article
STAG3 is a strong candidate gene for male infertility.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3421, doi. 10.1093/hmg/ddu051
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 13, p. NP, doi. 10.1093/hmg/ddu295
- Publication type:
- Article
Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3432, doi. 10.1093/hmg/ddu052
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- Article
Targeted ablation of Crb2 in photoreceptor cells induces retinitis pigmentosa.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3384, doi. 10.1093/hmg/ddu048
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- Article
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3456, doi. 10.1093/hmg/ddu054
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- Article
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3506, doi. 10.1093/hmg/ddu058
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- Article
Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3596, doi. 10.1093/hmg/ddu069
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- Article
Cover Page.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. NP, doi. 10.1093/hmg/ddu293
- Publication type:
- Article
Association of polyalanine and polyglutamine coiled coils mediates expansion disease-related protein aggregation and dysfunction.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3402, doi. 10.1093/hmg/ddu049
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- Article
Gne depletion during zebrafish development impairs skeletal muscle structure and function.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3349, doi. 10.1093/hmg/ddu045
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- Article
Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3513, doi. 10.1093/hmg/ddu059
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Inherited mitochondrial DNA variants can affect complement, inflammation and apoptosis pathways: insights into mitochondrial–nuclear interactions.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3537, doi. 10.1093/hmg/ddu065
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C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3579, doi. 10.1093/hmg/ddu068
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The familial Alzheimer's disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3523, doi. 10.1093/hmg/ddu064
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A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3607, doi. 10.1093/hmg/ddu070
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