Lenka Nosková
Publications by Year
Research Areas
Cellular transport and secretion, Lysosomal Storage Disorders Research, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology
Most-Cited Works
- → Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver(2012)381 cited
- → Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis(2011)261 cited
- → TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy(2008)197 cited
- → Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)(2006)95 cited
- → Mutations in ANTXR1 Cause GAPO Syndrome(2013)92 cited
- → Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2(2015)78 cited
- → The influence of pore size on colonization of poly(l-lactide-glycolide) scaffolds with human osteoblast-like MG 63 cells in vitro(2007)77 cited
- → Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder(2020)59 cited
- → Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene(2013)46 cited
- → DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome(2022)42 cited