Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 17
Results: 22
Amyloid precursor protein (APP) contributes to pathology in the SOD1G93A mouse model of amyotrophic lateral sclerosis.
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- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3871, doi. 10.1093/hmg/dds215
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- Article
Loss of function of Ifi202b by a microdeletion on chromosome 1 of C57BL/6J mice suppresses 11β-hydroxysteroid dehydrogenase type 1 expression and development of obesity.
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- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3845, doi. 10.1093/hmg/dds213
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- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 17, p. NP, doi. 10.1093/hmg/dds276
- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 17, p. NP, doi. 10.1093/hmg/dds280
- Publication type:
- Article
Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicity.
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- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3785, doi. 10.1093/hmg/dds206
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- Article
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
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- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3835, doi. 10.1093/hmg/dds212
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- Article
E2F transcription factor-1 deficiency reduces pathophysiology in the mouse model of Duchenne muscular dystrophy through increased muscle oxidative metabolism.
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- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3910, doi. 10.1093/hmg/dds219
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- Article
The autoimmunity-associated BLK haplotype exhibits cis-regulatory effects on mRNA and protein expression that are prominently observed in B cells early in development.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3918, doi. 10.1093/hmg/dds220
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- Article
Evidence for an oligogenic basis of amyotrophic lateral sclerosis.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3776, doi. 10.1093/hmg/dds199
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- Publication type:
- Article
Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome.
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- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3825, doi. 10.1093/hmg/dds211
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- Article
Retrocochlear function of the peripheral deafness gene Cacna1d.
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- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3896, doi. 10.1093/hmg/dds217
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- Article
Signaling defects in iPSC-derived fragile X premutation neurons.
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- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3795, doi. 10.1093/hmg/dds207
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- Publication type:
- Article
Early transcriptional changes linked to naturally occurring Huntington's disease mutations in neural derivatives of human embryonic stem cells.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3883, doi. 10.1093/hmg/dds216
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- Publication type:
- Article
Early complex I assembly defects result in rapid turnover of the ND1 subunit.
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- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3815, doi. 10.1093/hmg/dds209
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- Article
Calpain and STriatal-Enriched protein tyrosine Phosphatase (STEP) activation contribute to extrasynaptic NMDA receptor localization in a Huntington's disease mouse model.
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- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3739, doi. 10.1093/hmg/dds154
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- Article
Deep sequencing unearths Nuclear mitochondrial Sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3753, doi. 10.1093/hmg/dds182
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- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 17, p. NP, doi. 10.1093/hmg/dds274
- Publication type:
- Article
Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3806, doi. 10.1093/hmg/dds208
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- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 17, p. NP, doi. 10.1093/hmg/dds278
- Publication type:
- Article
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation.
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- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3858, doi. 10.1093/hmg/dds214
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- Article
The role of genetic breast cancer susceptibility variants as prognostic factors.
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- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3926
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- Article
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
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- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3765, doi. 10.1093/hmg/dds198
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- Publication type:
- Article