Anna Přistoupilová
Charles University(CZ)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Genomics and Rare Diseases, Glycogen Storage Diseases and Myoclonus, Cellular transport and secretion, Metabolism and Genetic Disorders
Most-Cited Works
- → Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis(2011)261 cited
- → Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia(2016)155 cited
- → 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
- → Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer(2014)90 cited
- → Two Novel Mutations in theBCKDK(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients(2014)84 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
- → Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene(2013)70 cited
- → Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease(2018)53 cited
- → Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene(2013)46 cited