Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 11
Results: 26
Editorial Board.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. NP, doi. 10.1093/hmg/ddu221
- Publication type:
- Article
Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2802, doi. 10.1093/hmg/ddt623
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- Publication type:
- Article
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2888
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- Publication type:
- Article
Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 3024, doi. 10.1093/hmg/ddu019
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- Publication type:
- Article
Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2981, doi. 10.1093/hmg/ddu009
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- Publication type:
- Article
Drebrin E depletion in human intestinal epithelial cells mimics Rab8a loss of function.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2834, doi. 10.1093/hmg/ddt670
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- Publication type:
- Article
Filamin-interacting proteins, Cfm1 and Cfm2, are essential for the formation of cartilaginous skeletal elements.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2953, doi. 10.1093/hmg/ddu007
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- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. NP, doi. 10.1093/hmg/ddu229
- Publication type:
- Article
Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2968, doi. 10.1093/hmg/ddu008
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- Publication type:
- Article
FGFR3 mutation causes abnormal membranous ossification in achondroplasia.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2914, doi. 10.1093/hmg/ddu004
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- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. NP, doi. 10.1093/hmg/ddu220
- Publication type:
- Article
Identification and analysis of large intergenic non-coding RNAs regulated by p53 family members through a genome-wide analysis of p53-binding sites.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2847, doi. 10.1093/hmg/ddt673
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- Publication type:
- Article
Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2816, doi. 10.1093/hmg/ddu099
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- Publication type:
- Article
PRPF4 mutations cause autosomal dominant retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2926, doi. 10.1093/hmg/ddu005
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- Publication type:
- Article
Transgenic expression of Map3k4 rescues T-associated sex reversal (Tas) in mice.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 3035, doi. 10.1093/hmg/ddu020
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- Publication type:
- Article
Zn2+ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2791, doi. 10.1093/hmg/ddt572
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- Publication type:
- Article
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 3054, doi. 10.1093/hmg/ddt675
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- Publication type:
- Article
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2880, doi. 10.1093/hmg/ddu001
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- Publication type:
- Article
Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2901, doi. 10.1093/hmg/ddu003
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- Publication type:
- Article
c-Abl phosphorylates α-synuclein and regulates its degradation: implication for α-synuclein clearance and contribution to the pathogenesis of Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2858, doi. 10.1093/hmg/ddt674
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- Publication type:
- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. NP, doi. 10.1093/hmg/ddu219
- Publication type:
- Article
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 3045, doi. 10.1093/hmg/ddt671
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- Publication type:
- Article
Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 3069, doi. 10.1093/hmg/ddu098
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- Publication type:
- Article
Interactions between Tau and α-synuclein augment neurotoxicity in a Drosophila model of Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 3008, doi. 10.1093/hmg/ddu011
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- Publication type:
- Article
Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2940, doi. 10.1093/hmg/ddu006
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- Publication type:
- Article
A potent and selective Sirtuin 1 inhibitor alleviates pathology in multiple animal and cell models of Huntington's disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2995, doi. 10.1093/hmg/ddu010
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- Publication type:
- Article