Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ivana Slámová"'
Publikováno v:
Neurologie pro praxi. 24:146-150
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9666e11d78d777cf7cd5122d85145003
https://doi.org/10.36290/neu.2023.002
https://doi.org/10.36290/neu.2023.002
Autor:
Ivana Slámová, Petr Kuglík, Miluše Vilémová, Jana Šoukalová, Eva Zrnová, Renata Gaillyová, Vladimíra Vranová
Publikováno v:
Molecular Syndromology. 2:88-93
We report an infant with a unique combination of 22q11 deletion syndrome and 14q terminal deletion syndrome. The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, micrognathia, high-arched palate, hyper
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55448139ed0aab7be0dae23c2b939a0c
https://doi.org/10.1159/000335334
https://doi.org/10.1159/000335334
Autor:
Ivana Slamova, Rozita Adib, Stephan Ellmerich, Michal R. Golos, Janet A. Gilbertson, Nicola Botcher, Diana Canetti, Graham W. Taylor, Nigel Rendell, Glenys A. Tennent, Guglielmo Verona, Riccardo Porcari, P. Patrizia Mangione, Julian D. Gillmore, Mark B. Pepys, Vittorio Bellotti, Philip N. Hawkins, Raya Al-Shawi, J. Paul Simons
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
ATTR amyloidosis causes heart failure through the accumulation of misfolded transthyretin in cardiac muscle. Here the authors report a mouse model of ATTR amyloidosis and demonstrate the involvement of protease activity in ATTR amyloid deposition.
Externí odkaz:
https://doaj.org/article/52dd9743e5e94eff8fed79314e07bdac