Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 13
Results: 22
Genomic removal of a therapeutic mini-dystrophin gene from adult mice elicits a Duchenne muscular dystrophy-like phenotype.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2633, doi. 10.1093/hmg/ddw123
- By:
- Publication type:
- Article
Suppression of the motor deficit in a mucolipidosis type IV mouse model by bone marrow transplantation.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2752, doi. 10.1093/hmg/ddw132
- By:
- Publication type:
- Article
Structural and molecular myelination deficits occur prior to neuronal loss in the YAC128 and BACHD models of Huntington disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2621, doi. 10.1093/hmg/ddw122
- By:
- Publication type:
- Article
CRISPR/Cas9-mediated mutation of PHEX in rabbit recapitulates human X-linked hypophosphatemia (XLH).
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2661, doi. 10.1093/hmg/ddw125
- By:
- Publication type:
- Article
Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2728, doi. 10.1093/hmg/ddw130
- By:
- Publication type:
- Article
Identification of a novel susceptibility locus at 16q23.1 associated with childhood acute lymphoblastic leukemia in Han Chinese.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2873, doi. 10.1093/hmg/ddw112
- By:
- Publication type:
- Article
Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2645, doi. 10.1093/hmg/ddw124
- By:
- Publication type:
- Article
BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2672, doi. 10.1093/hmg/ddw126
- By:
- Publication type:
- Article
The contribution of mutant GBA to the development of Parkinson disease in Drosophila.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2712, doi. 10.1093/hmg/ddw129
- By:
- Publication type:
- Article
Oxygen consumption deficit in Huntington disease mouse brain under metabolic stress.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2813, doi. 10.1093/hmg/ddw138
- By:
- Publication type:
- Article
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2862, doi. 10.1093/hmg/ddw104
- By:
- Publication type:
- Article
Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2776, doi. 10.1093/hmg/ddw135
- By:
- Publication type:
- Article
Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2853, doi. 10.1093/hmg/ddw141
- By:
- Publication type:
- Article
Oxidative metabolism and Ca<sup>2+</sup> handling in isolated brain mitochondria and striatal neurons from R6/2 mice, a model of Huntington's disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2762, doi. 10.1093/hmg/ddw133
- By:
- Publication type:
- Article
ER-shaping proteins are required for ER and mitochondrial network organization in motor neurons.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2827, doi. 10.1093/hmg/ddw139
- By:
- Publication type:
- Article
Characterization of macrozoospermia-associated AURKC mutations in a mammalian meiotic system.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2698, doi. 10.1093/hmg/ddw128
- By:
- Publication type:
- Article
EZH2 is overexpressed in adrenocortical carcinoma and is associated with disease progression.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2789, doi. 10.1093/hmg/ddw136
- By:
- Publication type:
- Article
Deletion of CTNNB1 in inhibitory circuitry contributes to autism-associated behavioral defects.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2738, doi. 10.1093/hmg/ddw131
- By:
- Publication type:
- Article
Genome-wide association study of serum coenzyme Q<sub>10</sub> levels identifies susceptibility loci linked to neuronal diseases.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2881, doi. 10.1093/hmg/ddw134
- By:
- Publication type:
- Article
Dominant and recessive mutations in rhodopsin activate different cell death pathways.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2801, doi. 10.1093/hmg/ddw137
- By:
- Publication type:
- Article
Characterization of SKAP/kinastrin isoforms: the N-terminus defines tissue specificity and Pontin binding.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2838, doi. 10.1093/hmg/ddw140
- By:
- Publication type:
- Article
Increased expression of the frontotemporal dementia risk factor TMEM106B causes C9orf72-dependent alterations in lysosomes.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2681, doi. 10.1093/hmg/ddw127
- By:
- Publication type:
- Article