Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 5
Results: 21
Mutant SOD1 impairs axonal transport of choline acetyltransferase and acetylcholine release by sequestering KAP3.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 942, doi. 10.1093/hmg/ddn422
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Phosphorylation does not prompt, nor prevent, the formation of α-synuclein toxic species in a rat model of Parkinson's disease.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 872
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Disruption of the neurexin 1 gene is associated with schizophrenia.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 988
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Combined kinase inhibition modulates parkin inactivation.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 809
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Mutually exclusive binding of PP1 and RNA to AKAP149 affects the mitochondrial network.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 978, doi. 10.1093/hmg/ddn425
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Cover Page.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. NP, doi. 10.1093/hmg/ddp064
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- Article
Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 966, doi. 10.1093/hmg/ddn424
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Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 919, doi. 10.1093/hmg/ddn430
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A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 911, doi. 10.1093/hmg/ddn420
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Tau deletion exacerbates the phenotype of Niemann–Pick type C mice and implicates autophagy in pathogenesis.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 956, doi. 10.1093/hmg/ddn423
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ABCA4 disease progression and a proposed strategy for gene therapy.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 931, doi. 10.1093/hmg/ddn421
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Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 861, doi. 10.1093/hmg/ddn411
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Contents Page.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. NP, doi. 10.1093/hmg/ddp063
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- Article
Differential requirements for retinal degeneration slow intermolecular disulfide-linked oligomerization in rods versus cones.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 797, doi. 10.1093/hmg/ddn406
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Systematic identification of cis-silenced genes by trans complementation.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 835, doi. 10.1093/hmg/ddn409
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Editorial Board.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. NP, doi. 10.1093/hmg/ddp065
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- Article
Dominant-negative inhibition of Ca2+ influx via TRPV2 ameliorates muscular dystrophy in animal models.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 824, doi. 10.1093/hmg/ddn408
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- Article
A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 847
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- Article
17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 898, doi. 10.1093/hmg/ddn419
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Subscription Page.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 5, p. NP, doi. 10.1093/hmg/ddp066
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- Article
NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 888, doi. 10.1093/hmg/ddn418
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- Article