Hana Hartmannova
Overview
Explore the profile of Hana Hartmannova including associated specialties, affiliations and a list of published articles.
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36
Citations
835
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Recent Articles
1.
Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response
Zivna M, Dostalova G, Baresova V, Musalkova D, Svojsova K, Meiseles D, et al.
J Am Soc Nephrol
. 2024 Dec;
PMID: 39704415
No abstract available.
2.
Kubanek M, Binova J, Piherova L, Krebsova A, Kotrc M, Hartmannova H, et al.
ESC Heart Fail
. 2024 Aug;
11(6):4127-4138.
PMID: 39129193
Aims: Recent-onset dilated cardiomyopathy (RODCM) is characterized by heterogeneous aetiology and diverse clinical outcomes, with scarce data on genotype-phenotype correlates. Our aim was to correlate individual RODCM genotypes with left...
3.
Elhassan E, Kmochova T, Benson K, Fennelly N, Baresova V, Kidd K, et al.
Kidney Int Rep
. 2024 Jul;
9(7):2209-2226.
PMID: 39081747
Introduction: Monoallelic variants in the gene encoding asparagine-linked glycosylation protein 5 homolog (ALG5) have been recently shown to disrupt polycystin-1 (PC1) maturation and trafficking via underglycosylation, causing an autosomal dominant...
4.
Musalkova D, Pristoupilova A, Jedlickova I, Hartmannova H, Treslova H, Noskova L, et al.
Genes Brain Behav
. 2024 Feb;
23(1):e12882.
PMID: 38359179
The genetic correlates of extreme impulsive violence are poorly understood, and there have been few studies that have characterized a large group of affected individuals both clinically and genetically. We...
5.
Kmochova T, Kidd K, Orr A, Hnizda A, Hartmannova H, Hodanova K, et al.
Kidney Int
. 2023 Dec;
105(4):799-811.
PMID: 38096951
Sporadic cases of apolipoprotein A-IV medullary amyloidosis have been reported. Here we describe five families found to have autosomal dominant medullary amyloidosis due to two different pathogenic APOA4 variants. A...
6.
Musalkova D, Piherova L, Kwasny O, Dindova Z, Stancik L, Hartmannova H, et al.
Sci Rep
. 2023 Apr;
13(1):6156.
PMID: 37061534
The inability to predict the evolution of the COVID-19 epidemic hampered abilities to respond to the crisis effectively. The cycle threshold (Ct) from the standard SARS-CoV-2 quantitative reverse transcription-PCR (RT-qPCR)...
7.
Sikora J, Kmochova T, Musalkova D, Pohludka M, Prikryl P, Hartmannova H, et al.
Kidney Int
. 2021 Sep;
101(2):349-359.
PMID: 34560138
Amyloid A amyloidosis is a serious clinical condition resulting from the systemic deposition of amyloid A originating from serum amyloid A proteins with the kidneys being the most commonly and...
8.
Vyletal P, Kidd K, Ainsworth H, Springer D, Vrbacka A, Pristoupilova A, et al.
Am J Nephrol
. 2021 Jun;
52(5):378-387.
PMID: 34098564
Introduction: Patients with ADTKD-MUC1 have one allele producing normal mucin-1 (MUC1) and one allele producing mutant MUC1, which remains intracellular. We hypothesized that ADTKD-MUC1 patients, who have only 1 secretory-competent...
9.
Olahova M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville E, et al.
Nat Commun
. 2021 Feb;
12(1):1135.
PMID: 33602924
While >300 disease-causing variants have been identified in the mitochondrial DNA (mtDNA) polymerase γ, no mitochondrial phenotypes have been associated with POLRMT, the RNA polymerase responsible for transcription of the...
10.
Zivna M, Kidd K, Zaidan M, Vyletal P, Baresova V, Hodanova K, et al.
Kidney Int
. 2020 Aug;
98(6):1589-1604.
PMID: 32750457
There have been few clinical or scientific reports of autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN), limiting characterization. To further study this, we formed an international cohort...