Anna Uhrová Mészárosová

Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni et al. · Brain · 2021 · 46 citations · Full text

Genetics, Biallelic Hpdl Variants, Pathology +20

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 et al. · Clinical Genetics · 2020 · 32 citations

<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 et al. · Genetic Testing and Molecular Biomarkers · 2018 · 25 citations

GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?

Barbora Beňová, Maurits Sanders, Anna Uhrová Mészárosová et al. · European Journal of Paediatric Neurology · 2021 · 24 citations

Neuropsychology, Neurological Disorder, Neuroanatomy +10

Expanding the phenotype spectrum associated with pathogenic variants in the <i>COL2A1</i> and <i>COL11A1</i> genes

Jana Čopíková, Jana Paděrová, Věra Románková et al. · Annals of Human Genetics · 2020 · 20 citations