Výsledky vyhledávání - "Klara Pavlickova"

HomozygousEXOSC3Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma

Autor: Pavel Seeman, B. Petrak, Josef Zamecnik, Klara Pavlickova, Ludmila Hornofova, Lenka Mrazkova, Mahulena Mojzisova, Jaroslava Paulasová Schwabová, Marie Kaluzova, Petra Hedvicakova, Filip Fencl, Dana Safka Brozkova, Jana Haberlová, Marcela Krutova

Publikováno v: Journal of Neurogenetics. 27:163-169

Pontocerebellar hypoplasia type 1 (PCH1) is characterized by cerebellar and anterior horn motor neuron degeneration and loss, signs of spinal muscular atrophy plus. Patients manifest severe perinatal weakness, hypotonia, and respiratory insufficiency

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::102b8c00dfbabf33c85b1ea610ec9ad9
https://doi.org/10.3109/01677063.2013.814651

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A4.15 Serum Levels of Visfatin and B-Cell Activating Factor of the TNF Family Correlate with Disease Activity in Patients with Myositis

Autor: Josef Zamecnik, Olga Kryštůfková, Martin Klein, Ladislav Šenolt, Heřman Mann, Hana Hulejová, Jiří Vencovský, Klara Pavlickova

Publikováno v: Annals of the Rheumatic Diseases. 72:A29.2-A29

Background and Objectives Visfatin is an adipocytokine that supports B-lymphocyte precursor maturation, and also takes part in regulation of inflammation. Anti-histidyl-tRNA syntethase antibodies (anti-Jo-1) are the most frequent myositis specific au

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7720edfed74f76c8da10b9f21c838575
https://doi.org/10.1136/annrheumdis-2013-203217.15

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