Helena Hůlková - Concepedia

Author

Helena Hůlková

Also Known As

H Hulkova, H Hůlková, H. HULKOVA, H. Hulkova, H. Hulková, H. Hůlková, HELENA HULKOVA, Helena Hulkova, Helena Hülkova, Helena Hůlková

Publications

3.1K

Citations

H-Index

Concepts

All Affiliations

Charles University Wake Forest University General University Hospital in Prague Inserm Université Paris Cité

About

Helena Hůlková is an author at Charles University specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	18	1.2K
2	Biochemistry	4	4	102
3	Cell Biology	3	3	383
4	Health Sciences	2	2	45
5	Hepatology	1	1	27

Helena Hůlková

Publications

2.6K

Citations

H-Index

Page 1

	Year	Citations
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing Andrew Kirby, Andreas Gnirke, David B. Jaffe, Nature Genetics	2013	304
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis Lenka Nosková, Viktor Stránecký, Hana Hartmannová, The American Journal of Human Genetics Linkage MappingNeurogenomicsGeneticsPathologyNeurochemical Biomarkers	2011	261
Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure Martina Živná, Helena Hůlková, Marie Matignon, The American Journal of Human Genetics HypertensionRenal FunctionMedicineGeneticsRenal Pathology	2009	163
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia Nikhita Bolar, Christelle Golzio, Martina Živná, The American Journal of Human Genetics	2016	152
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model C Martins, Helena Hůlková, Larbi Dridi, Brain	2015	142
Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation Eon Joo Park, Kariona A. Grabińska, Ziqiang Guan, Cell Metabolism Signal TransductionMendelian DisorderG Protein-coupled ReceptorGenetic DisorderGenetics	2014	138
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome Petr Vyleťal, Martina Kublová, Marie Hubálek Kalbáčová, Kidney International UrologyMendelian DisorderDisease MechanismGenetic DisorderHeterogeneous Fjhn/mckd Syndrome	2006	123
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 Helena Hůlková Human Molecular Genetics Lactosylceramide AccumulationGeneticsPathologyMolecular GeneticsSubstrate Reduction Therapy	2001	110
Loss of function of Sco1 and its interaction with cytochrome <i>c</i> oxidase Lukáš Stibůrek, Kateřina Veselá, Hana Hansı́ková, American Journal of Physiology-Cell Physiology	2009	98
Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens Helena Hůlková, M. Elleder Histopathology	2012	92

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