Helena Hulkova
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Explore the profile of Helena Hulkova including associated specialties, affiliations and a list of published articles.
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46
Citations
1121
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Recent Articles
1.
Murgasova L, Hulkova H, Baresova V, Jurovcik M, Stritesky J, Jurickova K, et al.
Virchows Arch
. 2024 Aug;
PMID: 39174755
No abstract available.
2.
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...
3.
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...
4.
Murgasova L, Hulkova H, Baresova V, Jurovcik M, Stritesky J, Jurickova K, et al.
Virchows Arch
. 2023 Oct;
484(1):135-140.
PMID: 37787787
Despite the adenoids are regularly removed in patients with mucopolysaccharidoses (MPS), the underlying tissue and cellular pathologies remain understudied. We characterized an (immuno)histopathologic and ultrastructural phenotype dominated by lysosomal storage...
5.
Zivna M, Kidd K, Baresova V, Hulkova H, Kmoch S, Bleyer Sr A
Am J Med Genet C Semin Med Genet
. 2022 Oct;
190(3):309-324.
PMID: 36250282
The clinical characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD) include bland urinary sediment, slowly progressive chronic kidney disease (CKD) with many patients reaching end stage renal disease (ESRD) between...
6.
Dostalova G, Hulkova H, Linhart A
Kardiol Pol
. 2021 Oct;
79(12):1385-1386.
PMID: 34668177
No abstract available.
7.
Marek J, Kuchynka P, Mikulenka V, Palecek T, Sikora J, Hulkova H, et al.
Cardiovasc Pathol
. 2020 Oct;
50:107297.
PMID: 33045360
Mucopolysaccharidosis type VII (MPS VII) is a rare autosomal recessive lysosomal storage disorder. MPS VII is caused by mutations in the GUSB gene that encodes β-glucuronidase. Adult MPS VII patients...
8.
Jedlickova I, Pristoupilova A, Hulkova H, Vrbacka A, Stranecky V, Hruba E, et al.
J Neuropathol Exp Neurol
. 2020 Aug;
79(10):1065-1071.
PMID: 32827029
Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder categorized into 3 phenotypic variants: infantile, juvenile, and adult. Four recent reports have linked NIID to CGG expansions in the...
9.
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...
10.
Park I, Hulkova H, Krijt J, Kozich V, Bublil E, Majtan T
Hum Mutat
. 2020 Jul;
41(9):1662-1670.
PMID: 32623804
Classical homocystinuria (HCU) is an inborn error of metabolism caused by loss of cystathionine β-synthase (CBS) activity with the concomitant buildup of homocysteine. In knockout (KO) mice, a mouse model...