Hana Hansíkova: search on Z-Library

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1

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

Abu Bakar, Nurulamin, Voermans, Nicol C., Marquardt, Thorsten, Thiel, Christian, Janssen, Mirian C.H., Hansikova, Hana, Crushell, Ellen, Sykut-Cegielska, Jolanta, Bowling, Francis, Mørkrid, Lars, Viss

Journal:

Translational Research

Year:

2018

Language:

english

File:

PDF, 1.14 MB

english, 2018

2

Activities of respiratory chain complexes in isolated platelets in females with anorexia nervosa

Marek Böhm, Hana Papezova, Dr Hana Hansikova, Laszlo Wenchich, Prof Jiri Zeman

Journal:

Journal of Eating Disorders

Year:

2007

Language:

english

File:

PDF, 93 KB

english, 2007

3

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

Magner, Martin, Dvorakova, Veronika, Tesarova, Marketa, Mazurova, Stella, Hansikova, Hana, Zahorec, Martin, Brennerova, Katarina, Bzduch, Vladimir, Spiegel, Ronen, Horovitz, Yoseph, Mandel, Hanna, Emi

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 80 KB

english, 2015

4

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

Honzik, Tomas, Tesarova, Marketa, Magner, Martin, Mayr, Johannes, Jesina, Pavel, Vesela, Katerina, Wenchich, Laszlo, Szentivanyi, Karol, Hansikova, Hana, Sperl, Wolfgang, Zeman, Jiri

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 313 KB

english, 2012

5

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5

Kolarova, Hana, Liskova, Petra, Tesarova, Marketa, Vidrova, Vendula Kucerova, Forgac, Martin, Zamecnik, Josef, Hansikova, Hana, Honzik, Tomas

Journal:

Ophthalmic Genetics

Year:

2016

Language:

english

File:

PDF, 836 KB

english, 2016

6

Cytochrome c oxidase deficiency in Czech and Slovak children

Katerina Vesela⁎, Hana Hansikova, Jiri Zeman

Journal:

Year:

2011

Language:

english

File:

PDF, 54 KB

english, 2011

7

A reconstituted cytochrome P450 system from tulip bulbs (Tulipa fosteriana L.) oxidizes xenobiotics

Hana Hansíková, Eva Frei, Heinz H. Schmeiser, Pavel Anzenbacher, Marie Stiborová

Journal:

Year:

1995

Language:

english

File:

PDF, 893 KB

english, 1995

8

Heterozygous deletion of TYMP and SCO2 genes in combination with c.261C > T mutation in TYMP as a cause of MNGIE

Markéta Tesařová⁎, Kamila Vinšová, Vendula Kučerová, Hana Hansíková, Tomáš Honzík, Jakub Krijt, Eva Karásková, Vratislav Smolka, Jiří Zeman

Journal:

Year:

2011

Language:

english

File:

PDF, 68 KB

english, 2011

9

45 Mitochondrial energy system in liver and muscle tissue during foetal development

Hana Hansikova, Martina Pejznochova, Vendula Havlickova, Zuzana Hajkova, Martin Magner, Helena Hulkova, Jiri Zeman

Journal:

Year:

2010

Language:

english

File:

PDF, 40 KB

english, 2010

10

TMEM70 deficiency: long-term outcome of 48 patients

Magner, Martin, Dvorakova, Veronika, Tesarova, Marketa, Mazurova, Stella, Hansikova, Hana, Zahorec, Martin, Brennerova, Katarina, Bzduch, Vladimir, Spiegel, Ronen, Horovitz, Yoseph, Mandel, Hanna, Emi

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 512 KB

english, 2015

11

Novel phenotype associated with OPA1 mutations?

Markéta Tesařová, Viktor Stránecký, Hana Kratochvílová, Zuzana Hájková, Jana Sládková, Jana Spáčilová, Hana Hansíková, Tomáš Honzík, Hana Hartmannová, Lenka Nosková, Lenka Piherová, Emilie Lalonde, Ja

Journal:

Year:

2012

Language:

english

File:

PDF, 58 KB

english, 2012

12

Topology of TMEM70 in the inner mitochondrial membrane

Hana Kratochvilova, Marketa Tesarova, Tomas Mracek, Katerina Hejzlarova, Hana Hansikova, Josef Houstek, Jiri Zeman

Journal:

Year:

2012

Language:

english

File:

PDF, 58 KB

english, 2012

13

Changes in hydrogen sulfide production in cystathionine beta-synthase deficiency

Kožich, Viktor, Krijt, Jakub, Sokolová, Jitka, Vozdek, Roman, Melenovská, Petra, Hansíková, Hana, Kratochvílová, Hana, Rodinová, Marie, Majtan, Tomáš, Kraus, Jan P.

Journal:

Year:

2015

Language:

english

File:

PDF, 91 KB

english, 2015

14

Developmental changes of mitochondrial DNA content and expression of genes involved in mtDNA transcription and maintenance in human fetal liver and muscle tissues

Martina Pejznochova, Marketa Tesarova, Hana Hansikova, Martin Magner, Tomas Honzik, Kamila Vinsova, Zuzana Hajkova, Vendula Havlickova, Jiri Zeman

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2010

Language:

english

File:

PDF, 79 KB

english, 2010

15

Altered properties of mitochondrial ATP-synthase in patients with a T → G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA

Josef Houštek, Petr Klement, Jana Hermanska, Hana Houšťková, Hana Hansíková, Coby Van den Bogert, Jiri Zeman

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1995

Language:

english

File:

PDF, 996 KB

english, 1995

16

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder

Liskova, Petra, Ulmanova, Olga, Tesina, Petr, Melsova, Hana, Diblik, Pavel, Hansikova, Hana, Tesarova, Marketa, Votruba, Marcela

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2013

Language:

english

File:

PDF, 652 KB

english, 2013

17

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature

Mazurova, Stella, Magner, Martin, Kucerova-Vidrova, Vendula, Vondrackova, Alzbeta, Stranecky, Viktor, Pristoupilova, Anna, Zamecnik, Josef, Hansikova, Hana, Zeman, Jiri, Tesarova, Marketa, Honzik, Tom

Journal:

Cardiology in the Young

Year:

2016

Language:

english

File:

PDF, 255 KB

english, 2016

18

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Čížková, Alena, Stránecký, Viktor, Mayr, Johannes A, Tesařová, Markéta, Havlíčková, Vendula, Paul, Jan, Ivánek, Robert, Kuss, Andreas W, Hansíková, Hana, Kaplanová, Vilma

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 362 KB

english, 2008

19

Knockdown of Human Oxa1l Impairs the Biogenesis of F1Fo-ATP Synthase and NADH:Ubiquinone Oxidoreductase

Lukas Stiburek, Daniela Fornuskova, Laszlo Wenchich, Martina Pejznochova, Hana Hansikova, Jiri Zeman

Journal:

Journal of Molecular Biology

Year:

2007

Language:

english

File:

PDF, 751 KB

english, 2007

20

Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency

Böhm, Marek, Pronicka, Ewa, Karczmarewicz, Elżbieta, Pronicki, Maciej, Piekutowska-Abramczuk, Dorota, Sykut-Cegielska, Jolanta, Mierzewska, Hanna, Hansikova, Hana, Vesela, Katerina, Tesarova, Marketa,

Journal:

Pediatric Research

Year:

2006

Language:

english

File:

PDF, 186 KB

english, 2006

21

Warburg Effect’s Manifestation in Aggressive Pheochromocytomas and Paragangliomas: Insights from a Mouse Cell Model Applied to Human Tumor Tissue

Fliedner, Stephanie M. J., Kaludercic, Nina, Jiang, Xiao-Sheng, Hansikova, Hana, Hajkova, Zuzana, Sladkova, Jana, Limpuangthip, Andrea, Backlund, Peter S., Wesley, Robert, Martiniova, Lucia, Jochmanov

Journal:

Year:

2012

Language:

english

File:

PDF, 597 KB

english, 2012

22

Activities of mitochondrial respiratory chain complexes in platelets of patients with Alzheimer's disease and depressive disorder

Fišar, Zdeněk, Hansíková, Hana, Křížová, Jana, Jirák, Roman, Kitzlerová, Eva, Zvěřová, Martina, Hroudová, Jana, Wenchich, László, Zeman, Jiří, Raboch, Jiří

Journal:

Year:

2019

Language:

english

File:

PDF, 721 KB

english, 2019

23

Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1

Stiburek, Lukas, Vesela, Katerina, Hansikova, Hana, Pecina, Petr, Tesarova, Marketa, Cerna, Leona, Houstek, Josef, Zeman, Jiri

Journal:

Biochemical Journal

Year:

2005

Language:

english

File:

PDF, 340 KB

english, 2005

24

Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b

Fornuskova, Daniela, Stiburek, Lukas, Wenchich, Laszlo, Vinsova, Kamila, Hansikova, Hana, Zeman, Jiri

Journal:

Biochemical Journal

Year:

2010

Language:

english

File:

PDF, 1007 KB

english, 2010

25

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

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

26

The relationship of mitochondrial dysfunction and the development of insulin resistance in Cushing’s syndrome

Ježková, Jana, Ďurovcová, Viktória, Wenchich, Laszlo, Hansíková, Hana, Zeman, Jiří, Hána, Václav, Marek, Josef, Lacinová, Zdeňka, Haluzík, Martin, Kršek, Michal

Journal:

Diabetes Metabolic Syndrome and Obesity Targets and Therapy

Year:

2019

File:

PDF, 870 KB

2019

27

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

Slaba, Katerina, Noskova, Hana, Vesela, Petra, Tuckova, Jana, Jicinska, Hana, Honzik, Tomas, Hansikova, Hana, Kleiblova, Petra, Stourac, Petr, Jabandziev, Petr, Slaby, Ondrej, Prochazkova, Dagmar

Journal:

Frontiers in Genetics

Year:

2020

File:

PDF, 1.83 MB

2020

28

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency

Tomáš Honzík, Martin Magner, Jakub Krijt, Jitka Sokolová, Oliver Vugrek, Robert Belužić, Ivo Barić, Hana Hansíkova, Milan Elleder, Kateřina Veselá, Lenka Bauerová, Nina Ondrušková, Pavel Ješina, Jiří

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 154 KB

english, 2012

29

[BMJ Publishing Group Ltd EHDN 2018 Plenary Meeting, Vienna, Austria, Programme and Abstracts - ()] Models for HD - B12âLongitudinal view of mitochondrial bioenergetics in skeletal muscle of premanifest transgenic minipig model for huntingtonâs disease

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

Year:

2018

File:

PDF, 71 KB

2018

30

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1FoATP synthase deficiency

Alena Čížková, Viktor Stránecký, Robert Ivánek, Hana Hartmannová, Lenka Nosková, Lenka Piherová, Markéta Tesařová, Hana Hansíková, Tomáš Honzík, Jiří Zeman, Petr Divina, Andrea Potocká, Jan Paul, Wolf

Journal:

Year:

2008

Language:

english

File:

PDF, 702 KB

english, 2008

31

Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206

JEŠINA, Pavel, TESAŘOVÁ, Markéta, FORNŮSKOVÁ, Daniela, VOJTÍŠKOVÁ, Alena, PECINA, Petr, KAPLANOVÁ, Vilma, HANSÍKOVÁ, Hana, ZEMAN, Jiří, HOUŠTĚK, Josef

Journal:

Biochemical Journal

Year:

2004

Language:

english

File:

PDF, 429 KB

english, 2004

32

Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts fromα-mannosidosis patients

Olga Brantova, Befekadu Asfaw, Jana Sladkova, Helena Poupetova, Jan Zivny, Martin Magner, Jan Krusek, Katerina Vesela, Hana Hansikova, Jana Ledvinova, Marketa Tesarova, Jiri Zeman

Journal:

Year:

2009

Language:

english

File:

PDF, 550 KB

english, 2009

33

The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues

Daniela Fornuskova, Olga Brantova, Marketa Tesarova, Lukas Stiburek, Tomas Honzik, Laszlo Wenchich, Evzenie Tietzeova, Hana Hansikova, Jiri Zeman

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2008

Language:

english

File:

PDF, 747 KB

english, 2008

34

C17 Increased mitochondrial number, cellular stress and glycogen accumulation in heart of minipig model transgenic for N-terminal part of human mutated huntingtin

Rodinova, Marie, Ondruskova, Nina, Dosoudilova, Zaneta, Juhas, Stefan, Juhasova, Jana, Ellederova, Zdenka, Motlik, Jan, Hansikova, Hana

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2016

Language:

english

File:

PDF, 68 KB

english, 2016

35

Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis

Cesnekova, Jana, Rodinova, Marie, Hansikova, Hana, Zeman, Jiri, Stiburek, Lukas

Journal:

International Journal of Molecular Sciences

Year:

2018

Language:

english

File:

PDF, 1.54 MB

english, 2018

36

Different laboratory and muscle biopsy findings in a family with an m.8851T > C mutation in the mitochondrial MTATP6 gene

Tomas Honzik, Marketa Tesarova, Kamila Vinsova, Hana Hansikova, Martin Magner, Hana Kratochvilova, Josef Zamecnik, Jiri Zeman, Pavel Jesina

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 477 KB

english, 2013

37

Microarray Analysis of Mitochondrial Metabolism in Rat Liver and Skeletal Muscle during Perinatal Period: Striking Changes with Emphasis on Coenzyme Q Biosynthesis

Krizova, Jana, Hulkova, Martina, Capek, Vaclav, Zeman, Jiri, Hansikova, Hana

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2016

Language:

english

File:

PDF, 52 KB

english, 2016

38

Oral D-galactose supplementation in PGM1-CDG

Wong, Sunnie Yan-Wai, Gadomski, Therese, van Scherpenzeel, Monique, Honzik, Tomas, Hansikova, Hana, Holmefjord, Katja S Brocke, Mork, Marit, Bowling, Francis, Sykut-Cegielska, Jolanta, Koch, Dieter, H

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 939 KB

english, 2017

39

[BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13â15 June, Dublin, Ireland 2019 - ()] Abstracts - GP224âMultisystem mitochondrial diseases in children with maternally inherited complex I deficiency

Danhelovska, Tereza, Kolarova, Hana, Langer, Jan, Berankova, Kamila, Hansikova, Hana, Tesarova, Marketa, Honzik, Tomas, Zeman, Jiri

File:

PDF, 84 KB

40

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency

Vondrackova, Alzbeta, Vesela, Katerina, Hansikova, Hana, Zajicova Docekalova, Dagmar, Rozsypalova, Eva, Zeman, Jiri, Tesarova, Marketa

Journal:

Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 364 KB

english, 2012

41

Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry

Pecina, Petr, Houšťková, Hana, Mráček, Tomáš, Pecinová, Alena, Nůsková, Hana, Tesařová, Markéta, Hansíková, Hana, Janota, Jan, Zeman, Jiří, Houštěk, Josef

Journal:

Year:

2014

Language:

english

File:

PDF, 1.05 MB

english, 2014

42

Carnitine supplementation alleviates lipid metabolism derangements and protects against oxidative stress in non-obese hereditary hypertriglyceridemic rats

Cahova, Monika, Chrastina, Petr, Hansikova, Hana, Drahota, Zdenek, Trnovska, Jaroslava, Skop, Vojtech, Spacilova, Jana, Malinska, Hana, Oliyarnyk, Olena, Papackova, Zuzana, Palenickova, Eliska, Kazdov

Journal:

Applied Physiology Nutrition and Metabolism

Year:

2015

File:

PDF, 468 KB

2015

43

Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX

Ondruskova, Nina, Honzik, Tomas, Kolarova, Hana, Pakanova, Zuzana, Mucha, Jan, Zeman, Jiri, Hansikova, Hana

Journal:

Year:

2018

Language:

english

File:

PDF, 969 KB

english, 2018

44

Congenital disorders of glycosylation: Still âhotâ in 2020

Ondruskova, Nina, Cechova, Anna, Hansikova, Hana, Honzik, Tomas, Jaeken, Jaak

Journal:

Biochimica et Biophysica Acta (BBA) - General Subjects

Year:

2021

File:

PDF, 2.58 MB

2021

45

RFT1-CDG in adult siblings with novel mutations

Nina Ondruskova, Katerina Vesela, Hana Hansikova, Martin Magner, Jiri Zeman, Tomas Honzik

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 136 KB

english, 2012

46

Ultrastructural Changes of Mitochondria in the Cultivated Skin Fibroblasts of Patients with Point Mutations in Mitochondrial DNA

Brantová, Olga, Tesařová, Markéta, Hansíková, Hana, Elleder, Milan, Zeman, Jiří, Sládková, Jana

Journal:

Ultrastructural Pathology

Year:

2006

Language:

english

File:

PDF, 2.39 MB

english, 2006

47

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

Ashikov, Angel, Abu Bakar, Nurulamin, Wen, Xiao-Yan, Niemeijer, Marco, Rodrigues Pinto Osorio, Glentino, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Vicogne, Doroth

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 1.49 MB

english, 2018

48

Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation

Ondruskova, Nina, Honzik, Tomas, Vondrackova, Alzbeta, Stranecky, Viktor, Tesarova, Marketa, Zeman, Jiri, Hansikova, Hana

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

Language:

english

File:

PDF, 1.62 MB

english, 2020

49

Contiguous X-chromosome Deletion Syndrome Encompassing theBTK,TIMM8A,TAF7L, andDRP2Genes

Anna Šedivá, C. I. Edvard Smith, A. Charlotta Asplund, Jan Hadač, Aleš Janda, Jiří Zeman, Hana Hansíková, Lenka Dvořáková, Lenka Mrázová, Sirje Velbri, Carla Koehler, Karin Roesch, Kathleen E. Sulliva

Journal:

Journal of Clinical Immunology

Year:

2007

Language:

english

File:

PDF, 181 KB

english, 2007

50

C18 The hunt for biomarkers in presymptomatic large animal model: mitochondrial metabolism in spermatozoa of transgenic minipigs modelling huntington’s disease

Krizova, Jana, Stufkova, Hana, Rodinova, Marie, Macakova, Monika, Bohuslavova, Bozena, Pavlok, Antonin, Ellederova, Zdenka, Motlik, Jan, Zeman, Jiri, Hansikova, Hana

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2016

Language:

english

File:

PDF, 52 KB

english, 2016

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