A cell-based screen for modulators of ataxin-1 phosphorylation.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1095, doi. 10.1093/hmg/ddi122
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 8
Results: 13
1
2
GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1087, doi. 10.1093/hmg/ddi121
- By:
- Publication type:
- Article
3
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1077, doi. 10.1093/hmg/ddi120
- By:
- Publication type:
- Article
4
Abnormal Ca2+ release and catecholamine-induced arrhythmias in mitochondrial cardiomyopathy.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1069, doi. 10.1093/hmg/ddi119
- By:
- Publication type:
- Article
5
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1107, doi. 10.1093/hmg/ddi099
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- Publication type:
- Article
6
Transdifferentiation of the retinal pigment epithelia to the neural retina by transfer of the Pax6 transcriptional factor.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1059, doi. 10.1093/hmg/ddi098
- By:
- Publication type:
- Article
7
MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1049, doi. 10.1093/hmg/ddi097
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- Publication type:
- Article
8
The pathogenic agent in Drosophila models of ‘polyglutamine’ diseases.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1041, doi. 10.1093/hmg/ddi096
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- Publication type:
- Article
9
Muscle-specific BCL2 expression ameliorates muscle disease in laminin α2-deficient, but not in dystrophin-deficient, mice.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1029, doi. 10.1093/hmg/ddi095
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- Publication type:
- Article
10
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1019, doi. 10.1093/hmg/ddi094
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- Publication type:
- Article
11
A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1009, doi. 10.1093/hmg/ddi093
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- Publication type:
- Article
12
Frequent silencing of DBC1 is by genetic or epigenetic mechanisms in non-small cell lung cancers.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 8, p. 997, doi. 10.1093/hmg/ddi092
- By:
- Publication type:
- Article
13
Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith–Magenis syndrome.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 8, p. 983, doi. 10.1093/hmg/ddi085
- By:
- Publication type:
- Article