Found: 14
Select item for more details and to access through your institution.
Loss of wild-type huntingtin influences motor dysfunction and survival in the YAC128 mouse model of Huntington disease.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1379, doi. 10.1093/hmg/ddi147
- By:
- Publication type:
- Article
SLC18A2 promoter haplotypes and identification of a novel protective factor against alcoholism.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1393, doi. 10.1093/hmg/ddi148
- By:
- Publication type:
- Article
Fine-tuning in Ca2+ homeostasis underlies progression of cardiomyopathy in myocytes derived from genetically modified embryonic stem cells.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1367, doi. 10.1093/hmg/ddi146
- By:
- Publication type:
- Article
Intra-nuclear trafficking of the BLM helicase to DNA damage-induced foci is regulated by SUMO modification.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1351, doi. 10.1093/hmg/ddi145
- By:
- Publication type:
- Article
Common chromosomal fragile site FRA16D mutation in cancer cells.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1341, doi. 10.1093/hmg/ddi144
- By:
- Publication type:
- Article
Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1327, doi. 10.1093/hmg/ddi143
- By:
- Publication type:
- Article
SNPs, microarrays and pooled DNA: identification of four loci associated with mild mental impairment in a sample of 6000 children.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1315, doi. 10.1093/hmg/ddi142
- By:
- Publication type:
- Article
Functional analysis of Peutz–Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1283, doi. 10.1093/hmg/ddi139
- By:
- Publication type:
- Article
Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1293, doi. 10.1093/hmg/ddi140
- By:
- Publication type:
- Article
Identification of multiple nuclear export sequences in Fanconi anemia group A protein that contribute to CRM1-dependent nuclear export.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1271, doi. 10.1093/hmg/ddi138
- By:
- Publication type:
- Article
Shared gene expression profiles in individuals with autoimmune disease and unaffected first-degree relatives of individuals with autoimmune disease.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1305, doi. 10.1093/hmg/ddi141
- By:
- Publication type:
- Article
Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1261, doi. 10.1093/hmg/ddi137
- By:
- Publication type:
- Article
Association between a complex insertion/deletion polymorphism in NOD1 (CARD4) and susceptibility to inflammatory bowel disease.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1245, doi. 10.1093/hmg/ddi135
- By:
- Publication type:
- Article
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 10, p. 1251, doi. 10.1093/hmg/ddi136
- By:
- Publication type:
- Article