Lenka Piherová
Charles University(CZ)
Publications by Year
Research Areas
Cardiomyopathy and Myosin Studies, Cardiovascular Function and Risk Factors, Genomics and Rare Diseases, Congenital heart defects research, Cardiovascular Effects of Exercise
Most-Cited Works
- → Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness(2015)94 cited
- → Mutations in ANTXR1 Cause GAPO Syndrome(2013)92 cited
- → Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6(2016)78 cited
- → Oligonucleotide-based microarray: A new improvement in microarray detection of plant viruses(2005)66 cited
- → Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene(2013)46 cited
- → Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction(2020)41 cited
- → Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency(2008)27 cited
- → Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy(2021)27 cited
- → Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease(2020)18 cited
- → Rare Variants in known and Novel Candidate Genes Predisposing to Statin-Associated Myopathy(2016)17 cited