Found: 24
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Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2228
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. NP, doi. 10.1093/hmg/ddq171
- Publication type:
- Article
Regulatory polymorphisms in EGR2 are associated with susceptibility to systemic lupus erythematosus.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2313, doi. 10.1093/hmg/ddq092
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- Article
Variation in the uric acid transporter gene (SLC2A9) and memory performance.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2321, doi. 10.1093/hmg/ddq097
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- Article
The PCP genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2251, doi. 10.1093/hmg/ddq104
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- Article
Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres.
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- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2191, doi. 10.1093/hmg/ddq098
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- Publication type:
- Article
mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2123, doi. 10.1093/hmg/ddq089
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- Publication type:
- Article
Widespread enzymatic correction of CNS tissues by a single intracerebral injection of therapeutic lentiviral vector in leukodystrophy mouse models.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2208, doi. 10.1093/hmg/ddq099
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- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. NP, doi. 10.1093/hmg/ddq168
- Publication type:
- Article
Mutant huntingtin fragment selectively suppresses Brn-2 POU domain transcription factor to mediate hypothalamic cell dysfunction.
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- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2099, doi. 10.1093/hmg/ddq087
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- Publication type:
- Article
Synphilin-1 attenuates neuronal degeneration in the A53T α-synuclein transgenic mouse model.
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- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2087, doi. 10.1093/hmg/ddq086
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- Publication type:
- Article
Epigenetic maturation in colonic mucosa continues beyond infancy in mice.
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- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2168, doi. 10.1093/hmg/ddq095
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- Publication type:
- Article
Rilmenidine attenuates toxicity of polyglutamine expansions in a mouse model of Huntington's disease.
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- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2144, doi. 10.1093/hmg/ddq093
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- Publication type:
- Article
Skeletal muscle-restricted expression of human SOD1 causes motor neuron degeneration in transgenic mice.
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- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2284, doi. 10.1093/hmg/ddq106
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- Publication type:
- Article
The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis.
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- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2134
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- Publication type:
- Article
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2239, doi. 10.1093/hmg/ddq103
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- Publication type:
- Article
OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2113, doi. 10.1093/hmg/ddq088
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- Publication type:
- Article
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
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- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2303, doi. 10.1093/hmg/ddq091
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- Publication type:
- Article
Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2154, doi. 10.1093/hmg/ddq094
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- Publication type:
- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. NP, doi. 10.1093/hmg/ddq170
- Publication type:
- Article
CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis.
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- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2331
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- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. NP, doi. 10.1093/hmg/ddq169
- Publication type:
- Article
Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2177, doi. 10.1093/hmg/ddq096
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- Publication type:
- Article
Functional muscle analysis of the Tcap knockout mouse.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2268, doi. 10.1093/hmg/ddq105
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- Publication type:
- Article