Zobrazeno 1 - 10
of 86
pro vyhledávání: '"R. Rosipal"'
Akademický článek
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Publikováno v:
2017 11th International Conference on Measurement.
The study focused on separation of sleep electroencephalogram (EEG) of patients after ischemic stroke and sleep EEG of healthy subjects. A prognostic value of the characteristics as regards patients' recovery was also studied. Many spectral measures
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3def6d94b021844d319c09bbeb1b9e91
https://doi.org/10.23919/measurement.2017.7983582
https://doi.org/10.23919/measurement.2017.7983582
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:
K. Te Velde, Hervé Puy, Jérôme Lamoril, V. Da Silva, Laurent Gouya, F. W. M. De Rooij, Jean Charles Deybach, Pavel Martásek, R. Rosipal, Yves Nordmann
Publikováno v:
Human Mutation, 13, 44-53. Wiley-Liss Inc.
Hereditary coproporphyria (HC) is an acute hepatic porphyria with autosomal dominant inheritance caused by deficient activity of coproporphyrinogen III oxidase (CPO). Clinical manifestations of the disease are characterized by acute attacks of neurol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f0e038f379e38928413ba22074578dd
https://doi.org/10.1002/(sici)1098-1004(1999)13:1<44::aid-humu5>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1999)13:1<44::aid-humu5>3.0.co
Akademický článek
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Autor:
Hervé Puy, Jérôme Lamoril, Yves Nordmann, V. Da Silva, Jean Charles Deybach, T. Foint, Bernard Grandchamp, R. Rosipal, Jean-Paul Dommergues, Laurent Gouya, Brigitte Bader-Meunier
Publikováno v:
Europe PubMed Central
ResearcherID
ResearcherID
Porphyrias, a group of inborn errors of heme synthesis, are classified as hepatic or erythropoietic according to clinical data and the main site of expression of the specific enzymatic defect. Hereditary coproporphyria (HC) is an acute hepatic porphy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c0bc3dbf9f8905e8bc6399003ced77e
https://doi.org/10.1182/blood.v91.4.1453
https://doi.org/10.1182/blood.v91.4.1453
Publikováno v:
Scopus-Elsevier
Acute intermittent porphyria (AIP) is an autosomally dominant inherited metabolic disorders caused by decreased activity of porphobilinogen deaminase, the third enzyme in the human heme biosynthetic pathway. We report here the first mutations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa05322fba8b58d82b97c0c98f05e3cd
https://doi.org/10.3109/00365519709060030
https://doi.org/10.3109/00365519709060030
Publikováno v:
The FASEB Journal. 20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::37bf568e3347a8cb945c9384c80882e7
https://doi.org/10.1096/fasebj.20.4.a70-b
https://doi.org/10.1096/fasebj.20.4.a70-b
Akademický článek
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Autor:
L.J. Trejo, K.R. Wheeler, C.C. Jorgensen, R. Rosipal, S.T. Clanton, B. Matthews, A.D. Hibbs, R. Matthews, M. Krupka
Publikováno v:
IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society. 11(2)
We are developing electromyographic and electroencephalographic methods, which draw control signals for human-computer interfaces from the human nervous system. We have made progress in four areas: 1) real-time pattern recognition algorithms for deco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbe68d1a716289edf61f54cc5b2828d0
https://pubmed.ncbi.nlm.nih.gov/12899274
https://pubmed.ncbi.nlm.nih.gov/12899274