Anna U. Meszarosova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 9 publications

Anterior pallidal hyperintensity mimicking the eye of the tiger sign in spastic paraplegia type 7.

Anterior pallidal hyperintensity mimicking the eye of the tiger sign in spastic paraplegia type 7.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: September 05, 2023

SPG11: clinical and genetic features of seven Czech patients and literature review.

SPG11: clinical and genetic features of seven Czech patients and literature review.

Journal: Neurological research

Published: March 07, 2022

Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers.

Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers.

Journal: Clinical dysmorphology

Published: July 14, 2020

Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.

Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.

Journal: Clinical genetics

Published: June 24, 2020

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.

Journal: Annals of human genetics

Published: December 31, 2019

STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population.

STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population.

Journal: Genetic testing and molecular biomarkers

Published: February 10, 2018

Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.

Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.

Journal: Annals of human genetics

Published: February 28, 2017

Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients.

Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients.

Journal: International journal of pediatric otorhinolaryngology

Published: January 14, 2016

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.

Journal: Journal of human genetics

Published: January 06, 2016

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Last Updated: 09/26/2026