A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome

por Štufková, Hana, Kolářová, Hana, Lokvencová, Kateřina, Honzík, Tomáš, Zeman, Jiří, Hansíková, Hana, Tesařová, Markéta
Publicado 2022

Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells

por Daňhelovská, Tereza, Zdražilová, Lucie, Štufková, Hana, Vanišová, Marie, Volfová, Nikol, Křížová, Jana, Kuda, Ondřej, Sládková, Jana, Tesařová, Markéta
Publicado 2021

Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes

por Rákosníková, Tereza, Kelifová, Silvie, Štufková, Hana, Lokvencová, Kateřina, Lišková, Petra, Kousal, Bohdan, Honzík, Tomáš, Hansíková, Hana, Martínek, Václav, Tesařová, Markéta
Publicado 2023

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

por Skopkova, Martina, Stufkova, Hana, Rambani, Vibhuti, Stranecky, Viktor, Brennerova, Katarina, Kolnikova, Miriam, Pietrzykova, Michaela, Karhanek, Miloslav, Noskova, Lenka, Tesarova, Marketa, Hansikova, Hana, Gasperikova, Daniela
Publicado 2023

Deterioration of mitochondrial bioenergetics and ultrastructure impairment in skeletal muscle of a transgenic minipig model in the early stages of Huntington's disease

por Rodinova, Marie, Krizova, Jana, Stufkova, Hana, Bohuslavova, Bozena, Askeland, Georgina, Dosoudilova, Zaneta, Juhas, Stefan, Juhasova, Jana, Ellederova, Zdenka, Zeman, Jiri, Eide, Lars, Motlik, Jan, Hansikova, Hana
Publicado 2019

A transgenic minipig model of Huntington's disease shows early signs of behavioral and molecular pathologies

por Askeland, Georgina, Rodinova, Marie, Štufková, Hana, Dosoudilova, Zaneta, Baxa, Monika, Smatlikova, Petra, Bohuslavova, Bozena, Klempir, Jiri, Nguyen, The Duong, Kuśnierczyk, Anna, Bjørås, Magnar, Klungland, Arne, Hansikova, Hana, Ellederova, Zdenka, Eide, Lars
Publicado 2018