Genetic and pharmacological evidence implicates cathepsins in Niemann-Pick C cerebellar degeneration.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1434, doi. 10.1093/hmg/ddw025
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 7
Results: 16
1
2
Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1294, doi. 10.1093/hmg/ddw010
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- Publication type:
- Article
3
Genetic deletion of keratin 8 corrects the altered bone formation and osteopenia in a mouse model of cystic fibrosis.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1281, doi. 10.1093/hmg/ddw009
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- Publication type:
- Article
4
Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1406, doi. 10.1093/hmg/ddw023
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- Publication type:
- Article
5
Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1447, doi. 10.1093/hmg/ddw012
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- Publication type:
- Article
6
Phosphatidylserine enhances IKBKAP transcription by activating the MAPK/ERK signaling pathway.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1307, doi. 10.1093/hmg/ddw011
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- Publication type:
- Article
7
Gain-of-function profilin 1 mutations linked to familial amyotrophic lateral sclerosis cause seed-dependent intracellular TDP-43 aggregation.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1420, doi. 10.1093/hmg/ddw024
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- Publication type:
- Article
8
Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1255, doi. 10.1093/hmg/ddw006
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- Publication type:
- Article
9
Monoubiquitination of survival motor neuron regulates its cellular localization and Cajal body integrity.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1392, doi. 10.1093/hmg/ddw021
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- Publication type:
- Article
10
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1382, doi. 10.1093/hmg/ddw020
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- Publication type:
- Article
11
A critical period of vulnerability to adolescent stress: epigenetic mediators in mesocortical dopaminergic neurons.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1370, doi. 10.1093/hmg/ddw019
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- Publication type:
- Article
12
Collagen VI deficiency reduces muscle pathology, but does not improve muscle function, in the β-sarcoglycan-null mouse.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1357, doi. 10.1093/hmg/ddw018
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- Publication type:
- Article
13
Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1345, doi. 10.1093/hmg/ddw017
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- Publication type:
- Article
14
The ubiquitin ligase Ubr4 controls stability of podocin/MEC-2 supercomplexes.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1328, doi. 10.1093/hmg/ddw016
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- Publication type:
- Article
15
Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1318, doi. 10.1093/hmg/ddw013
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- Publication type:
- Article
16
Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1271, doi. 10.1093/hmg/ddw008
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- Publication type:
- Article