Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Katarína Kušíková"'
Autor:
Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek, René G. Feichtinger, Johannes A. Mayr, Martina Škopková, Daniela Gašperíková, Miriam Kolníková, Karoline Ornig, Ognian Kalev, Serge Weis, Denisa Weis
Publikováno v:
Genes, Vol 14, Iss 12, p 2174 (2023)
Background: X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from dysfunction of the protein myotubularin encoded by the MTM1 gene. XLMTM has a high neonatal and infantile mortality rate due to a severe myopathic phenotype
Externí odkaz:
https://doaj.org/article/38a5936ad93a48b8b8e97277fcd14f4b
Autor:
Katarína Kušíková, René Günther Feichtinger, Bernhard Csillag, Ognian Kostadinov Kalev, Serge Weis, Hans-Christoph Duba, Johannes Adalbert Mayr, Denisa Weis
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Mitochondriopathies represent a wide spectrum of miscellaneous disorders with multisystem involvement, which are caused by various genetic changes. The establishment of the diagnosis of mitochondriopathy is often challenging. Recently, several mutati
Externí odkaz:
https://doaj.org/article/09d82289bff1482faa7925d93a31400d
Autor:
René G. Feichtinger, Katarína Kušíková, Johannes A. Mayr, Denisa Weis, Serge Weis, Bernhard Csillag, Ognian Kalev, Hans-Christoph Duba
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics, Vol 9 (2021)
Mitochondriopathies represent a wide spectrum of miscellaneous disorders with multisystem involvement, which are caused by various genetic changes. The establishment of the diagnosis of mitochondriopathy is often challenging. Recently, several mutati
Publikováno v:
Journal of Paediatrics and Child Health. 57:938-940