Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Alena Zumrova"'
Autor:
Simona Karamazovova, Lucie Stovickova, Dylan J. Jester, Veronika Matuskova, Jaroslava Paulasova-Schwabova, Michaela Kuzmiak, Alena Zumrova, Ross Andel, Martin Vyhnalek
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Neuropsychiatric symptoms (NPS) are common in hereditary ataxias as a part of the cerebellar cognitive affective syndrome. In Friedreich ataxia (FRDA), one of the most common hereditary ataxias, depressive symptoms were previously reported,
Externí odkaz:
https://doaj.org/article/e44fc1fa8fdc4f2185344d0e4a948b7f
Autor:
Michaela Dankova, Jaroslav Jerabek, Dylan J Jester, Alena Zumrova, Jaroslava Paulasova Schwabova, Rudolf Cerny, Silvia Kmetonyova, Martin Vyhnalek
Publikováno v:
PLoS ONE, Vol 16, Iss 7, p e0255299 (2021)
Deterioration of dynamic visual acuity (DVA) as a result of impaired vestibulo-ocular reflex (VOR) has been well described in peripheral vestibulopathies, however, changes in DVA in patients with degenerative cerebellar ataxias (CA) and its relation
Externí odkaz:
https://doaj.org/article/0b133554cfca482f8dc74650f2d78cb6
Autor:
Karamazovova, Simona1 (AUTHOR), Stovickova, Lucie2 (AUTHOR), Jester, Dylan J.3 (AUTHOR), Matuskova, Veronika1 (AUTHOR), Paulasova-Schwabova, Jaroslava1 (AUTHOR), Kuzmiak, Michaela1 (AUTHOR), Zumrova, Alena2 (AUTHOR), Andel, Ross4 (AUTHOR), Vyhnalek, Martin1 (AUTHOR) martin.vyhnalek@fnmotol.cz
Publikováno v:
Scientific Reports. 11/23/2024, Vol. 14 Issue 1, p1-9. 9p.
Autor:
Alena Zumrova, Jan Hadac, Nadezda Misovicova, Daniela Zahorakova, A. Baxova, Jiri Zeman, Pavel Martásek, R. Rosipal, Vladimir Bzduch
Publikováno v:
Journal of Human Genetics. 52:342-348
Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder in females, is caused mainly by de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Here we report mutation analysis of the MECP2 gene in 87 patients with RTT from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4936e95fc9d1158096f6226ca8728b53
https://doi.org/10.1007/s10038-007-0121-x
https://doi.org/10.1007/s10038-007-0121-x
Autor:
Peter O, Bauer, Vaclav, Matoska, Alena, Zumrova, Arpad, Boday, Hiroshi, Doi, Tatana, Marikova, Petr, Goetz
Publikováno v:
Journal of applied genetics. 46(3)
We report on a family with spinocerebellar ataxia type 1 (SCA1), in which the age at onset and the severity of the disease do not correlate with the number of CAG repeat units. Although a marked anticipation was observed in the proband, it was not a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ae9e0f2b14bfd9859c5b792671ed2124
https://pubmed.ncbi.nlm.nih.gov/16110192
https://pubmed.ncbi.nlm.nih.gov/16110192
Autor:
Dankova, Michaela1 (AUTHOR), Jerabek, Jaroslav1 (AUTHOR), Jester, Dylan J.2 (AUTHOR), Zumrova, Alena3 (AUTHOR), Paulasova Schwabova, Jaroslava1 (AUTHOR), Cerny, Rudolf1 (AUTHOR), Kmetonyova, Silvia1 (AUTHOR), Vyhnalek, Martin1 (AUTHOR) martin.vyhnalek@fnmotol.cz
Publikováno v:
PLoS ONE. 7/29/2021, Vol. 16 Issue 7, p1-12. 12p.
Autor:
Zahorakova, Daniela1, Rosipal, Robert1, Hadac, Jan2, Zumrova, Alena3, Bzduch, Vladimir4, Misovicova, Nadezda5, Baxova, Alice6, Zeman, Jiri1, Martasek, Pavel1 pavel.martasek@gmail.com
Publikováno v:
Journal of Human Genetics. Apr2007, Vol. 52 Issue 4, p342-348. 7p. 2 Charts, 1 Graph.
Autor:
Hrdlicka, Michal1, Komarek, Vladimir2, Propper, Lukas1, Kulisek, Robert1, Zumrova, Alena2, Faladova, Ludvika2, Havlovicova, Marketa3, Sedlacek, Zdenek3, Blatny, Marek4, Urbanek, Tomas4
Publikováno v:
European Child & Adolescent Psychiatry. 2004, Vol. 13 Issue 4, p209-213. 5p. 4 Charts.
Autor:
Goetz, Michal, Schwabova, Jaroslava, Hlavka1, Zdenek, Ptacek, Radek, Zumrova1, Alena, Hort, Vladimir, Doyle, Robert, Hlavka, Zdenek, Zumrova, Alena, Hort, Vladimír
Publikováno v:
Journal of Attention Disorders; Feb2017, Vol. 21 Issue 3, p190-199, 10p