Výsledky vyhledávání - "Hana Vlaskova"

Akademický článek

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

Autor: Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier, Martin Hrebicek

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

Abstract Background Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused by mutations in the NPC1 or the NPC2 gene. NPC1 is a multipass-transmembrane protein essential for egress of cholesterol from late endosomes/lysosomes. To

Externí odkaz: https://doaj.org/article/031fa5ce876346a8afddbb9efd991352

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Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

Autor: Petra Liskova, Filip Majer, Alice Krebsová, Jiri Gurka, Tomas Palecek, Jakub Sikora, Tomas Kalina, Lenka Dvorakova, Lenka Piherová, Bohdan Kousal, Veronika Stará, Hana Vlaskova, Michel Michaelides, Milos Kubanek, Hana Langrová, Martin Meliska

Publikováno v: Acta Ophthalmologica. 99:61-68

Danon disease (DD) is a rare X-linked disorder caused by pathogenic variants in LAMP2. DD primarily manifests as a severe cardiomyopathy. An early diagnosis is crucial for patient survival. The aim of the study was to determine the usefulness of ocul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dd4fbb1e02578a10c951956b1cb0da2
https://doi.org/10.1111/aos.14478

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Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study

Autor: Tomáš Adam, Bohdan Kousal, Martina Farolfi, Petr Hanák, Petr Chrastina, Viktor Kožich, Eva Hruba, Hana Vlaskova, Marketa Pavlikova, Hana Foltenová, Tomas Honzik, Jiří Zeman, Vratislav Smolka, Kristina Rucklova, David Friedecký, Pavel Ješina

Publikováno v: Nutrients
Volume 13
Issue 9
Nutrients, Vol 13, Iss 2925, p 2925 (2021)

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD/MTPD) and medium chain acyl-CoA dehydrogenase deficiency (MCADD) were included in the expanded neonatal screening program (ENBS) in Czechia in 2009, allowing for the presymptomatic diagnos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c5d505d41ce33145ab2a888ba1fe507
https://pubmed.ncbi.nlm.nih.gov/34578803

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Alu ‐mediated Xq24 deletion encompassing CUL4B , LAMP2 , ATP1B4 , TMEM255A , and ZBTB33 genes causes Danon disease in a female patient

Autor: Milos Kubanek, Lenka Piherová, Martin Reboun, Hana Vlaskova, Tomas Kalina, Bohdan Kousal, Lenka Dvorakova, Stanislav Kmoch, Jiri Gurka, Filip Majer, Romana Mihalova, Jana Krihova, Petr Dusek, Alice Krebsová, Petra Liskova, Jakub Sikora

Publikováno v: American Journal of Medical Genetics Part A. 182:219-223

Cullin 4B (CUL4B), lysosomal-associated membrane protein Type 2 (LAMP2), ATP1B4, TMEM255A, and ZBTB33 are neighboring genes on Xq24. Mutations in CUL4B result in Cabezas syndrome (CS). Male CS patients present with dysmorphic, neuropsychiatric, genit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7a4bfbd1c44154fdecafa9f189fc2f2d
https://doi.org/10.1002/ajmg.a.61416

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Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay–Sachs disease

Autor: Jitka Jireckova, Radim Mazanec, Alena Zumrová, Helena Poupětová, Eva Košťálová, Martin Magner, Hana Vlaskova, Petr Mečíř, Zuzana Musova, Helena Jahnová

Publikováno v: Journal of Neurology. 266:1953-1959

Tay–Sachs disease (TSD) is an inherited neurodegenerative disorder caused by a lysosomal β-hexosaminidase A deficiency due to mutations in the HEXA gene. The late-onset form of disease (LOTS) is considered rare, and only a limited number of cases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80844c089d6efacd0aa328935b019340
https://doi.org/10.1007/s00415-019-09364-3

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X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations

Autor: Marketa, Zemanova, Petr, Chrastina, Lenka, Dvorakova, Martin, Reboun, Hana, Vlaskova, Helena, Jahnova, Nabil, El-Lababidi, Jana, Cepova, Tomas, Honzik, Jiri, Zeman

Publikováno v: Neuro endocrinology letters. 42(5)

X-linked adrenoleukodystrophy (X-ALD) causes cerebral adrenoleukodystrophy (cALD), myelopathy and/or adrenal insufficiency in males, and myelopathy/peripheral neuropathy in females. These distinct phenotypes are scarcely linked to a specific mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::514ce87a30589db7ae67a8c1b344340b
https://pubmed.ncbi.nlm.nih.gov/34506099

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Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II

Autor: Ivo Barić, Martin Reboun, Maja Djordjevic, Helena Poupetova, Gabriela Storkanova, Vladimir Bzduch, Jan Kulhánek, Eva Hruba, Karolína Pešková, Bozica Kecman, Ingeborg Barišić, Martin Magner, Ksenija Fumić, Hana Vlaskova, Jiri Zeman, Adrijan Sarajlija, Anna Hlavatá, Danijela Petkovic Ramadza, Lenka Dvorakova

Publikováno v: Clinical Genetics. 91:787-796

Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). We analyzed clinical and laboratory data from 44 Slavic patients with this disease. In

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::db2933041e609e071b0bb84dcfc9339d
https://doi.org/10.1111/cge.12927

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Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient

Autor: Filip, Majer, Bohdan, Kousal, Petr, Dusek, Lenka, Piherova, Martin, Reboun, Romana, Mihalova, Jiri, Gurka, Alice, Krebsova, Hana, Vlaskova, Lenka, Dvorakova, Jana, Krihova, Petra, Liskova, Stanislav, Kmoch, Tomas, Kalina, Milos, Kubanek, Jakub, Sikora

Publikováno v: American journal of medical genetics. Part AREFERENCES. 182(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::030ac09e9c7b1def1e3bfe9c9ecb5e0f
https://pubmed.ncbi.nlm.nih.gov/31729179

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