Anna Uhrová Mészárosová

Author

Also Known As

Anna Mészárosová, Anna Uhrova Meszarosova, Anna Uhrova-Meszarosova, Anna Uhrova‐Meszarosova, Anna Uhrová Meszarosová, Anna Uhrová Mészárosová

Publications

274

Citations

H-Index

Concepts

All Affiliations

Charles University University Hospital in Motol Gennet Krajská Zdravotní Comenius University Bratislava

About

Anna Uhrová Mészárosová is an author at Charles University specializing in medicine, neuropathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	113
2	Arts	1	1	16
3	Natural Sciences	1	1	46
4	Social Sciences	1	1	24
5	Biochemistry	1	1	46

Anna Uhrová Mészárosová

Publications

238

Citations

H-Index

Page 1

	Year	Citations
Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Brain GeneticsBiallelic Hpdl VariantsPathologyMolecular BiologyDisease Gene Identification	2021	46
Spectrum and frequencies of non <scp> <i>GJB2</i> </scp> gene mutations in Czech patients with early non‐syndromic hearing loss detected by gene panel NGS and whole‐exome sequencing Dana Šafka Brožková, Simona Poisson Marková, Anna Uhrová Mészárosová, Clinical Genetics	2020	32
<i>STRC</i> Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population Simona Poisson Marková, Dana Šafka Brožková, Petra Laššuthová, Genetic Testing and Molecular Biomarkers	2018	25
GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity? Barbora Beňová, Maurits Sanders, Anna Uhrová Mészárosová, European Journal of Paediatric Neurology NeuropsychologyNeurological DisorderNeuroanatomyEpilepsy Surgery PatientsNeurology	2021	24
Expanding the phenotype spectrum associated with pathogenic variants in the <i>COL2A1</i> and <i>COL11A1</i> genes Jana Čopíková, Jana Paděrová, Věra Románková, Annals of Human Genetics	2020	20
Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients Simona Poisson Marková, Dana Šafka Brožková, Anna Uhrová Mészárosová, International Journal of Pediatric Otorhinolaryngology Small Dfnb GenesMendelian DisorderGenetic DisorderGeneticsAudiology	2016	16
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region Dana Šafka Brožková, Anna Uhrová Mészárosová, Petra Laššuthová, Genes	2021	16
Genetic testing in children enrolled in epilepsy surgery program. A real-life study Barbora Straka, Barbora Splítková, Markéta Vlčková, European Journal of Paediatric Neurology Genetic TestingPediatric NeurosurgeryEpilepsy Surgery ProgramGenetic DisorderReal-life Study	2023	15
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia Anna Uhrová Mészárosová, Martina Putzová, Marie Čermáková, Journal of Human Genetics Down SyndromeDevelopmental AnomalyRare DiseasesMendelian DisorderFamilial Occurrence	2016	12
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant Dana Šafka Brožková, Lukáš Varga, Anna Uhrová Mészárosová, Orphanet Journal of Rare Diseases	2020	11

Page 1