Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 12
Results: 19
Biological effects of CCS in the absence of SOD1 enzyme activation: implications for disease in a mouse model for ALS.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1728, doi. 10.1093/hmg/ddn063
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- Article
Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1762, doi. 10.1093/hmg/ddn085
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- Article
Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1845, doi. 10.1093/hmg/ddn080
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- Article
Genome-wide association scans identified CTNNBL1 as a novel gene for obesity.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1803, doi. 10.1093/hmg/ddn072
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- Article
A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1718, doi. 10.1093/hmg/ddn062
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- Article
Absence seizures in C3H/HeJ and knockout mice caused by mutation of the AMPA receptor subunit Gria4.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1738, doi. 10.1093/hmg/ddn064
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- Article
C3 R102G polymorphism increases risk of age-related macular degeneration.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1821, doi. 10.1093/hmg/ddn075
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- Article
New approach reveals CD28 and IFNG gene interaction in the susceptibility to cervical cancer.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1838, doi. 10.1093/hmg/ddn077
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- Article
A functional SNP in EDG2 increases susceptibility to knee osteoarthritis in Japanese.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1790, doi. 10.1093/hmg/ddn069
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- Article
A regulatory variation in OPRK1, the gene encoding the κ-opioid receptor, is associated with alcohol dependence.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1783, doi. 10.1093/hmg/ddn068
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- Article
Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1750, doi. 10.1093/hmg/ddn066
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- Article
R125W coding variant in TBC1D1 confers risk for familial obesity and contributes to linkage on chromosome 4p14 in the French population.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1798, doi. 10.1093/hmg/ddn070
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- Article
Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1825, doi. 10.1093/hmg/ddn076
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- Article
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1855, doi. 10.1093/hmg/ddn081
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- Article
Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1867, doi. 10.1093/hmg/ddn082
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- Publication type:
- Article
Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1707, doi. 10.1093/hmg/ddn061
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- Article
Monoallele deletion of CBP leads to pericentromeric heterochromatin condensation through ESET expression and histone H3 (K9) methylation.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1774, doi. 10.1093/hmg/ddn067
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- Article
A functionally dominant mitochondrial DNA mutation.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1814, doi. 10.1093/hmg/ddn073
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- Publication type:
- Article
Rac1 mediates the osteoclast gains-in-function induced by haploinsufficiency of Nf1.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1876, doi. 10.1093/hmg/ddn103
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- Article