Works in Human Molecular Genetics, 2022, Vol 31, Issue 20
Results: 12
Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxia.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 20, p. 3539, doi. 10.1093/hmg/ddac134
- By:
- Publication type:
- Article
Carnosol, a diterpene present in rosemary, increases ELP1 levels in familial dysautonomia patient-derived cells and healthy adults: a possible therapy for FD.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 20, p. 3521, doi. 10.1093/hmg/ddac133
- By:
- Publication type:
- Article
Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 20, p. 3478, doi. 10.1093/hmg/ddac128
- By:
- Publication type:
- Article
Gene expression profiles in sporadic ALS fibroblasts define disease subtypes and the metabolic effects of the investigational drug EH301.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 20, p. 3458, doi. 10.1093/hmg/ddac118
- By:
- Publication type:
- Article
Chromenone derivatives as novel pharmacological chaperones for retinitis pigmentosa-linked rod opsin mutants.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 20, p. 3439, doi. 10.1093/hmg/ddac125
- By:
- Publication type:
- Article
Rare germline deleterious variants increase susceptibility for lung cancer.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 20, p. 3558, doi. 10.1093/hmg/ddac123
- By:
- Publication type:
- Article
Altered hydroxymethylome in the substantia nigra of Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 20, p. 3494, doi. 10.1093/hmg/ddac122
- By:
- Publication type:
- Article
Generation of a mouse model of the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 20, p. 3405, doi. 10.1093/hmg/ddac119
- By:
- Publication type:
- Article
Loss of BAF (mSWI/SNF) chromatin-remodeling ATPase Brg1 causes multiple malformations of cortical development in mice.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 20, p. 3504, doi. 10.1093/hmg/ddac127
- By:
- Publication type:
- Article
Loss of neurexin-1 in Drosophila melanogaster results in altered energy metabolism and increased seizure susceptibility.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 20, p. 3422, doi. 10.1093/hmg/ddac115
- By:
- Publication type:
- Article
randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 20, p. 3393, doi. 10.1093/hmg/ddac111
- By:
- Publication type:
- Article
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 20, p. 3566, doi. 10.1093/hmg/ddac051
- By:
- Publication type:
- Article