Heterozygous deletion of TYMP and SCO2 genes in combination with c.261C > T mutation in TYMP as a cause of MNGIE
Tesařová⁎, Markéta, Vinšová, Kamila, Kučerová, Vendula, Hansíková, Hana, Honzík, Tomáš, Krijt, Jakub, Karásková, Eva, Smolka, Vratislav, Zeman, Jiří
Published in Mitochondrion (01.07.2011)
Published in Mitochondrion (01.07.2011)
Get full text
Journal Article
SIGNIFICANT MARKET POWER ACT EFFICIENCY
Filipová, Alena, Mokrejšová, Veronika, Zeman, Jiří
Published in Acta academica karviniensia (30.12.2014)
Published in Acta academica karviniensia (30.12.2014)
Get full text
Journal Article
Large heterozygous deletions on 22q13.33 in combination with TYMP or SCO2 point mutations in two patients with mitochondrial disorders
Vondráčková, Alžběta, Veselá, Kateřina, Tesařová, Markéta, Vinšová, Kamila, Stránecký, Viktor, Hansíková, Hana, Zeman, Jiří
Published in Biochimica et biophysica acta. Bioenergetics (01.10.2012)
Published in Biochimica et biophysica acta. Bioenergetics (01.10.2012)
Get full text
Journal Article
Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome
Pecina, Petr, Čapková, Markéta, Chowdhury, Subir K.R., Drahota, Zdeněk, Dubot, Audrey, Vojtíšková, Alena, Hansíková, Hana, Houšt'ková, Hana, Zeman, Jiří, Godinot, Catherine, Houštěk, Josef
Published in Biochimica et biophysica acta (01.09.2003)
Published in Biochimica et biophysica acta (01.09.2003)
Get full text
Journal Article
Ultrastructural Changes of Mitochondria in the Cultivated Skin Fibroblasts of Patients with Point Mutations in Mitochondrial DNA
Brantová, Olga, Tesa ová, Markéta, Hansíková, Hana, Elleder, Milan, Zeman, Ji í, Sládková, Jana
Published in Ultrastructural pathology (01.07.2006)
Published in Ultrastructural pathology (01.07.2006)
Get full text
Journal Article
Mutation of NgBR, a subunit of cis-prenyltransferase, causes a congenial disorder of glycosylation
Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Hůlková, Helena, Wen, Rong, Kmoch, Stanislav, Sessa, William C.
Published in Cell metabolism (24.07.2014)
Published in Cell metabolism (24.07.2014)
Get full text
Journal Article
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency
Cízková, Alena, Stránecký, Viktor, Ivánek, Robert, Hartmannová, Hana, Nosková, Lenka, Piherová, Lenka, Tesarová, Markéta, Hansíková, Hana, Honzík, Tomás, Zeman, Jirí, Divina, Petr, Potocká, Andrea, Paul, Jan, Sperl, Wolfgang, Mayr, Johannes A, Seneca, Sara, Houstĕk, Josef, Kmoch, Stanislav
Published in BMC genomics (25.01.2008)
Published in BMC genomics (25.01.2008)
Get full text
Journal Article
Human knock-down of COQ8A in HEK293 (COQ8A-KD) recapitulates mild mitochondrial-deficiency phenotype of female ARCA2 patient
Krizova, Jana, Stufkova, Hana, Ptackova, Hana, Honzik, Tomas, Zeman, Jiri, Tesarova, Marketa, Hansikova, Hana
Published in Biochimica et biophysica acta. Bioenergetics (01.09.2024)
Published in Biochimica et biophysica acta. Bioenergetics (01.09.2024)
Get full text
Journal Article
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression
Zavadáková, Petra, Fowler, Brian, Suormala, Terttu, Novotna, Zorka, Mueller, Peter, Hennermann, Julia B., Zeman, Jiří, Vilaseca, M. Antonia, Vilarinho, Laura, Gutsche, Sven, Wilichowski, Ekkehard, Horneff, Gerd, Kožich, Viktor
Published in Human mutation (01.12.2005)
Published in Human mutation (01.12.2005)
Get full text
Journal Article
Genetic disorders of mitochondrial ATP synthase
Houštěk, Josef, Kmoch, Stanislav, Mayr, Johannes A., Sperl, Wolfgang, Zeman, Jiří
Published in Biochimica et biophysica acta. Bioenergetics (01.07.2010)
Published in Biochimica et biophysica acta. Bioenergetics (01.07.2010)
Get full text
Journal Article
Mitochondrial energy metabolism in very premature neonates
WENCHICH, Laszlo, ZEMAN, Jiri, HANSIKOVA, Hana, PLAVKA, Richard, SPERL, Wolfgang, HOUSTEK, Josef
Published in Biology of the neonate (01.01.2002)
Published in Biology of the neonate (01.01.2002)
Get full text
Journal Article
A Novel Deficiency of Mitochondrial ATPase of Nuclear Origin
Houštek, Josef, Klement, Petr, Floryk, Daniel, Antonická, Hana, Hermanská, Jana, Kalous, Martin, Hansíková, Hana, Houšt'ková, Hana, Chowdhury, Subir K. R., Rosipal, Štefan, Kmoch, Stanislav, Stratilová, Leona, Zeman, Jirí
Published in Human molecular genetics (01.10.1999)
Published in Human molecular genetics (01.10.1999)
Get full text
Journal Article