Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 14
Results: 19
Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2071, doi. 10.1093/hmg/ddn106
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- Article
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2150, doi. 10.1093/hmg/ddn114
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- Article
A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2118, doi. 10.1093/hmg/ddn110
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- Article
Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2228, doi. 10.1093/hmg/ddn123
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- Article
ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2219, doi. 10.1093/hmg/ddn122
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- Article
Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2244, doi. 10.1093/hmg/ddn125
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Premature aging in mice activates a systemic metabolic response involving autophagy induction.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2196
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The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2172, doi. 10.1093/hmg/ddn116
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- Article
DNA instability in low-risk myelodysplastic syndromes: refractory anemia with or without ring sideroblasts.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2144, doi. 10.1093/hmg/ddn113
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- Article
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2084, doi. 10.1093/hmg/ddn107
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- Article
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2132, doi. 10.1093/hmg/ddn112
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Aberrant molecular properties shared by familial Parkinson's disease-associated mutant UCH-L1 and carbonyl-modified UCH-L1.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2255, doi. 10.1093/hmg/ddn155
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The S18Y polymorphic variant of UCH-L1 confers an antioxidant function to neuronal cells.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2160, doi. 10.1093/hmg/ddn115
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- Article
Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2101, doi. 10.1093/hmg/ddn108
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- Article
Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2108, doi. 10.1093/hmg/ddn109
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- Article
A functional promoter variant in IL12B predisposes to cerebral malaria.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2190, doi. 10.1093/hmg/ddn118
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- Article
Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2181, doi. 10.1093/hmg/ddn117
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- Article
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2212, doi. 10.1093/hmg/ddn121
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- Article
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2238, doi. 10.1093/hmg/ddn124
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- Article