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Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.
Published in:
2016
By:
- Hrčková, Gabriela;
- Jankó, Viktor;
- Kytnarová, Jitka;
- Čižmárová, Michaela;
- Tesařová, Markéta;
- Košťálová, Ľudmila;
- Virgová, Daniela;
- Dallos, Tomáš;
- Hána, Václav;
- Lebl, Jan;
- Zeman, Jiří;
- Kovács, László;
- Hrčková, Gabriela;
- Jankó, Viktor;
- Kytnarová, Jitka;
- Čižmárová, Michaela;
- Tesařová, Markéta;
- Košťálová, Ľudmila;
- Virgová, Daniela;
- Dallos, Tomáš
Publication type:
journal article
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.
Published in:
Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 336, doi. 10.1093/brain/awu355
By:
- Martins, Carla;
- Hůlková, Helena;
- Dridi, Larbi;
- Dormoy-Raclet, Virginie;
- Grigoryeva, Lubov;
- Choi, Yoo;
- Langford-Smith, Alexander;
- Wilkinson, Fiona L.;
- Ohmi, Kazuhiro;
- DiCristo, Graziella;
- Hamel, Edith;
- Ausseil, Jerôme;
- Cheillan, David;
- Moreau, Alain;
- Svobodová, Eva;
- Hájková, Zuzana;
- Tesařová, Markéta;
- Hansíková, Hana;
- Bigger, Brian W.;
- Hrebícek, Martin
Publication type:
Article
Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7270, doi. 10.3390/ijms22147270
By:
- Daňhelovská, Tereza;
- Zdražilová, Lucie;
- Štufková, Hana;
- Vanišová, Marie;
- Volfová, Nikol;
- Křížová, Jana;
- Kuda, Ondřej;
- Sládková, Jana;
- Tesařová, Markéta
Publication type:
Article
Periodické horečky a jiná autoinflamatorní onemocnění.
Published in:
Journal of Czech Physicians / Časopis Lékařů Českých, 2018, v. 157, n. 3, p. 122
By:
- Fingerhutová, Šárka;
- Jančová, Eva;
- Tesařová, Markéta;
- Dvořáková, Lenka;
- Doležalová, Pavla
Publication type:
Article
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
Published in:
Nature Genetics, 2008, v. 40, n. 11, p. 1288, doi. 10.1038/ng.246
By:
- Čížková, Alena;
- Stránecký, Viktor;
- Mayr, Johannes A;
- Tesařová, Markéta;
- Havlíčková, Vendula;
- Paul, Jan;
- Ivánek, Robert;
- Kuss, Andreas W;
- Hansíková, Hana;
- Kaplanová, Vilma;
- Vrbacký, Marek;
- Hartmannová, Hana;
- Nosková, Lenka;
- Honzík, Tomáš;
- Drahota, Zdeněk;
- Magner, Martin;
- Hejzlarová, Kateřina;
- Sperl, Wolfgang;
- Zeman, Jiří;
- Houštěk, Josef
Publication type:
Article
Living in darkness: Exploring adaptation of Proteus anguinus in 3 dimensions by X-ray imaging.
Published in:
GigaScience, 2022, v. 11, p. 1, doi. 10.1093/gigascience/giac030
By:
- Tesařová, Markéta;
- Mancini, Lucia;
- Mauri, Edgardo;
- Aljančič, Gregor;
- Năpăruş-Aljančič, Magdalena;
- Kostanjšek, Rok;
- Bizjak Mali, Lilijana;
- Zikmund, Tomáš;
- Kaucká, Markéta;
- Papi, Federica;
- Goyens, Jana;
- Bouchnita, Anass;
- Hellander, Andreas;
- Adameyko, Igor;
- Kaiser, Jozef
Publication type:
Article
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.
Published in:
Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 766, doi. 10.3390/brainsci10110766
By:
- Anteneová, Nicole;
- Kelifová, Silvie;
- Kolářová, Hana;
- Vondráčková, Alžběta;
- Tóthová, Iveta;
- Lišková, Petra;
- Magner, Martin;
- Zámečník, Josef;
- Hansíková, Hana;
- Zeman, Jiří;
- Tesařová, Markéta;
- Honzík, Tomáš
Publication type:
Article
Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease.
Published in:
Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00802
By:
- Fingerhutová, Šárka;
- Fráňová, Jana;
- Hlaváčková, Eva;
- Jančová, Eva;
- Procházková, Leona;
- Beránková, Kamila;
- Tesařová, Markéta;
- Honsová, Eva;
- Doležalová, Pavla
Publication type:
Article
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 3, p. 431, doi. 10.1038/ejhg.2013.148
By:
- Vondráčková, Alžběta;
- Veselá, Kateřina;
- Kratochvílová, Hana;
- Kučerová Vidrová, Vendula;
- Vinšová, Kamila;
- Stránecký, Viktor;
- Honzík, Tomáš;
- Hansíková, Hana;
- Zeman, Jiří;
- Tesařová, Markéta
Publication type:
Article
Author Correction: A quantitative analysis of 3D-cell distribution in regenerative muscle-skeletal system with synchrotron X-ray computed microtomography.
Published in:
2020
By:
- Tesařová, Markéta;
- Mancini, Lucia;
- Simon, Andras;
- Adameyko, Igor;
- Kaucká, Markéta;
- Elewa, Ahmed;
- Lanzafame, Gabriele;
- Zhang, Yi;
- Kalasová, Dominika;
- Szarowská, Bára;
- Zikmund, Tomáš;
- Novotná, Marie;
- Kaiser, Jozef
Publication type:
Correction Notice
Local retinoic acid signaling directs emergence of the extraocular muscle functional unit.
Published in:
PLoS Biology, 2020, v. 18, n. 11, p. 1, doi. 10.1371/journal.pbio.3000902
By:
- Comai, Glenda Evangelina;
- Tesařová, Markéta;
- Dupé, Valerie;
- Rhinn, Muriel;
- Vallecillo-García, Pedro;
- da Silva, Fabio;
- Feret, Betty;
- Exelby, Katherine;
- Dollé, Pascal;
- Carlsson, Leif;
- Pryce, Brian;
- Spitz, François;
- Stricker, Sigmar;
- Zikmund, Tomáš;
- Kaiser, Jozef;
- Briscoe, James;
- Schedl, Andreas;
- Ghyselinck, Norbert B.;
- Schweitzer, Ronen;
- Tajbakhsh, Shahragim
Publication type:
Article
Mitochondrial DNA Haplogroups in the Czech Population Compared to Other European Countries.
Published in:
Human Biology, 2008, v. 80, n. 6, p. 669
By:
- VIDROVÁ, VENDULA;
- TESAŘOVÁ, MARKÉTA;
- TREFILOVÁ, EVA;
- HONZÍK, TOMÁŠ;
- MAGNER, MARTIN;
- ZEMAN, JIŘÍ
Publication type:
Article
Hepatocelulární karcinom u kojence s tyrosinemií typ 1.
Published in:
Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2023, v. 78, n. 3, p. 161, doi. 10.55095/cspediatrie2023/021
By:
- Silvie, Kelifová;
- Tomáš, Honzík;
- Markéta, Tesařová;
- Lucie, Gonsorčíková;
- Eva, Sticová;
- Jana, Mašková;
- Josef, Mališ;
- Jiří, Froněk;
- Jiří, Zeman
Publication type:
Article
A quantitative analysis of 3D-cell distribution in regenerating muscle-skeletal system with synchrotron X-ray computed microtomography.
Published in:
Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-32459-2
By:
- Tesařová, Markéta;
- Mancini, Lucia;
- Simon, Andras;
- Adameyko, Igor;
- Kaucká, Markéta;
- Elewa, Ahmed;
- Lanzafame, Gabriele;
- Zhang, Yi;
- Kalasová, Dominika;
- Szarowská, Bára;
- Zikmund, Tomáš;
- Novotná, Marie;
- Kaiser, Jozef
Publication type:
Article
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes.
Published in:
Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1182288
By:
- Rákosníková, Tereza;
- Kelifová, Silvie;
- Štufková, Hana;
- Lokvencová, Kateřina;
- Lišková, Petra;
- Kousal, Bohdan;
- Honzík, Tomáš;
- Hansíková, Hana;
- Martínek, Václav;
- Tesařová, Markéta
Publication type:
Article
A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome.
Published in:
Genes, 2022, v. 13, n. 7, p. 1245, doi. 10.3390/genes13071245
By:
- Štufková, Hana;
- Kolářová, Hana;
- Lokvencová, Kateřina;
- Honzík, Tomáš;
- Zeman, Jiří;
- Hansíková, Hana;
- Tesařová, Markéta
Publication type:
Article
Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.
Published in:
Prague Medical Report, 2019, v. 120, n. 4, p. 124, doi. 10.14712/23362936.2019.17
By:
- Čechová, Anna;
- Baxová, Alice;
- Zeman, Jiří;
- Lambert, Lukáš;
- Honzík, Tomáš;
- Leiská, Alena;
- Čunát, Václav;
- Tesařová, Markéta
Publication type:
Article
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.
Published in:
Prague Medical Report, 2017, v. 118, n. 2/3, p. 87, doi. 10.14712/23362936.2017.8
By:
- Medek, Karel;
- Zeman, Jiří;
- Honzík, Tomáš;
- Hansíková, Hana;
- Švecová, Štěpánka;
- Beránková, Kamila;
- Vidrová, Vendula Kučerová;
- Kuklík, Miloslav;
- Chomiak, Jiří;
- Tesařová, Markéta
Publication type:
Article
Subjective and polysomnographic evaluation of sleep in mitochondrial optic neuropathies.
Published in:
Journal of Sleep Research, 2021, v. 30, n. 2, p. 1, doi. 10.1111/jsr.13051
By:
- Příhodová, Iva;
- Nepožitek, Jiří;
- Kelifová, Silvie;
- Dostálová, Simona;
- Kemlink, David;
- Šonka, Karel;
- Tesařová, Markéta;
- Honzík, Tomáš;
- Kolářová, Hana
Publication type:
Article

Found: 19