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Helena Hůlková | doi.page

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Helena Hůlková

Charles University(CZ)General University Hospital in Prague(CZ)

Publications by Year

Research Areas

Lysosomal Storage Disorders Research, Cellular transport and secretion, Biomedical Research and Pathophysiology, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology

Most-Cited Works

→ Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease(2013)371 cited
→ Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing(2013)306 cited
→ Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis(2011)261 cited
→ Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure(2009)163 cited
→ Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia(2016)155 cited
→ Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model(2015)144 cited

→ Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation(2014)

139 cited

→ Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome(2006)125 cited

→ A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation(2001)110 cited

→ Loss of function of Sco1 and its interaction with cytochrome c oxidase(2009)98 cited