Katalóg evidencie publikačnej činnosti PU

ID záznamu:	PU.Prešov.2013120409530325
Kategória:	ADC
Autor:	Dojčáková Dana (55%)
Autor:	Mistrík Martin (5%)
Autor:	Bernasovská Jarmila (10%)
Autor:	Bôžiková Alexandra (5%)
Autor:	Behulová Regína (5%)
Autor:	Tóthová Iveta (10%)
Autor:	Mačeková Soňa (10%)
Názov:	Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia [print, elektronický dokument]
Zdroj:	Journal of Applied Genetics [print]
Lokácia:	Roč. 54, č. 4. - Berlín : Springer International Publishing AG, (2013), s. 455-460
ISSN:	1234-1983. - ISSN 2190-3883
Ohlas:	[1] 2014. ERICKSON, R.P., MITCHISON, N.A. The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review. In Journal of applied genetics, ISSN 1234-1983. 2014, vol. 55, no. 3, s. 319-327.
Ohlas:	[1] 2014. KOLVEK, G., PODRACKA, L., ROSENBERGER, J. et al. Kidney diseases in Roma and non-Roma children from eastern Slovakia: are Roma children more at risk?. In International journal of public health, ISSN 1661-8556. 2014, vol. 59, no. 6, s. 1023-1026.
Ohlas:	[1] 2015. MUTO, M., MORI, M., HIWASA, T. et al. Novel serum autoantibodies against talin1 in multiple sclerosis: Possible pathogenetic roles of the antibodies. In Journal of neuroimmunology, ISSN 0165-5728. 2015, vol. 284, s. 30-36.
Ohlas:	[1] 2018. PEDDAREDDYGARI, L.R., OBEROI, K., GREWAL, R.P. Clinical and genetic analysis of an asian indian family with charcot-marie-tooth disease type 4C. In Case reports in neurology, ISSN 1662-680X. 2018, vol. 10, no. 1, s. 38-44.
Ohlas:	[1] 2017. BROŽKOVÁ, Š., PAULASOVÁ SCHWABOVÁ, J., NEUPAUEROVÁ, J. HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8. In Journal of human genetics, ISSN 1434-5161. 2017, vol. 62, no. 3, s. 431-435.
Ohlas:	[1] 2016. MAYER, B., SILLÓ, P., MAZÁN, M. et al. A unique LAMB3 splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries. In British journal of dermatology, ISSN 0007-0963. 2016, vol. 175, no. 4, s. 721-727.
Ohlas:	[1] 2016. BROŽKOVÁ, Š., HABERLOVÁ, J., MAZANEC, R. et al. HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL. In Clinical genetics, ISSN 0009-9163. 2016, vol. 90, no. 2, s. 161-165.
Ohlas:	[1] 2019. RUMORA, A.E., SAVIELIEFF, M.G., SAKOWSKI, S.A. et al. Disorders of mitochondrial dynamics in peripheral neuropathy: clues from hereditary neuropathy and diabetes. In International review of neurobiology, ISSN 0074-7742. 2019, vol. 145, s. 127-176.
Ohlas:	[1] 2019. PIPIS, M., ROSSOR, A.M., REILLY, M.M. Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges. In Nature reviews neurology, ISSN 1759-4758. 2019, vol. 15, no. 11, s. 644-656.
Ohlas:	[1] 2022. ALKATTAN, A., ALKHALIFAH, A., ALSALAMEEN, E. et al. Polymorphisms of genes related to phase II metabolism and resistance to clopidogrel. In Pharmacogenomics, ISSN 1462-2416. 2022, roč. 23, č. 1, s. 61-79. SCOPUS;WOS:000726618100001.
Ohlas:	[1] 2022. MONDAL, T., LOFFREDO, Ch., TRNOVEC, T. et al. Gene expression signatures in PCB-exposed Slovak children in relation to their environmental exposures and socio-physical characteristics. In Environmental science and pollution research, ISSN 0944-1344. 2022, roč. 29, č. 40, s. 60531-60541. SCOPUS;WOS:000782550600014.
Ohlas:	[1] 2022. ZAVILESKIY, L.G., ALESHIN, V.A., KAEHNE, T. et al. The brain protein acylation system responds to seizures in the rat model of PTZ-induced epilepsy. In International journal of molecular sciences, ISSN 1661-6596. 2022, roč. 23, č. 20, art. no. 12302. SCOPUS;WOS:000873177800001.
Ohlas:	[1] 2021. SUN, H., SHEN, X.R., FANG, Z.B. et al. Next-generation sequencing technologies and neurogenetic diseases. In Life, ISSN 2075-1729. 2021, roč. 11, č. 4, art. no. 361. SCOPUS;WOS:000643227300001.
Ohlas:	[1] 2021. ECKENSTALER, R., BENNDORF, R.A. The role of ABCG2 in the pathogenesis of primary hyperuricemia and gout—an update. In International journal of molecular sciences, ISSN 1661-6596. 2021, roč. 22, č. 13, art. no. 6678. SCOPUS;WOS:000671012200001.
Ohlas:	[1] 2020. MOOSAVI, R.S., JAHANGIR, S.N., HOUSHMAND, M. Investigation of mutations in exon 14 of SH3TC2 gene and exon 7 of NDRG1 gene in Iranian Charcot-Marie-Tooth disease type 4 (CMT4D) patients. In Iranian journal of child neurology, ISSN 1735-4668. 2020, roč. 14, č. 2, s. 93-100. SCOPUS;WOS:000519622400009.
Ohlas:	[1] 2023. LEÓN, M., PRIETO, J., MOLINA-NAVARRO, M.M. et al. Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response. In Cell death discovery [online], ISSN 2058-7716. 2023 [cit. 2024-05-17], roč. 9, č. 1, art no. 217. WOS:001022485100004; SCOPUS. Dostupný na internete <https://www.nature.com/articles/s41420-023-01531-w>
Ohlas:	[1] 2023. MOGHADAM, M.G., ELAHI, Z., SOVEYZI, M. et al. Expanding the molecular spectrum of HK1-related charcot-marie-tooth disease, type 4G; the first report in Iran. In Archives of Iranian medicine, ISSN 1029-2977. 2023, roč. 26, č. 5, s. 279-284. WOS:001055596900008; SCOPUS.
Ohlas:	[1] 2023. PERDOMO-RAMÍREZ, A., RAMOS-TRUJILLO, E., CLAVERIE-MARTÍN, F. New SLC22A12 (URAT1) variant associated with renal Hypouricemia identified by whole-exome sequencing analysis and bioinformatics predictions. In Genes [online], ISSN 2073-4425. 2023 [cit. 2024-05-17], roč. 14, č. 9, art no. 1823. WOS:001076613000001; SCOPUS. Dostupný na internete <https://www.mdpi.com/2073-4425/14/9/1823>
Ohlas:	[1] 2023. PERDOMO-RAMIREZ, A., CORDOBA-LANUS, E., TRUJILLO-FRIAS, C.J. et al. Pathogenic variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish patients with renal Hypouricemia: founder effect of SLC2A9 variant c.374C>T; p.(T125M). In International journal of molecular sciences, ISSN 1661-6596. 2023, roč. 24, č. 9, art no. 8455. WOS:000987679100001.
Ohlas:	[1] 2023. ADOMAKO, E.A., MOE, O.W. Uric acid transport, transporters, and their pharmacological targeting. In Acta physiologica, ISSN 1748-1708. 2023, roč. 238, č. 2. WOS:000979940300001; SCOPUS.
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