Zobrazeno 1 - 4
of 4
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:
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