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51

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations

Nikola Kovářová, Alena Čížková Vrbacká, Petr Pecina, Viktor Stránecký, Ewa Pronicka, Stanislav Kmoch, Josef Houštěk

Journal:

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

Year:

2012

Language:

english

File:

PDF, 1.04 MB

english, 2012

52

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

Agnieszka Jurecka, Marie Zikanova, Anna Tylki-Szymanska, Jakub Krijt, Anna Bogdanska, Wanda Gradowska, Karolina Mullerova, Jolanta Sykut-Cegielska, Stanislav Kmoch, Ewa Pronicka

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 409 KB

english, 2008

53

54. Sanfilippo syndrome type C: Novel mutations in the HGSNAT gene

Matthew Feldhammer, Stephanie Durand, Lenka Mrazova, Otto P. van Diggelen, Martin Hrebicek, Stanislav Kmoch, Alexey V. Pshezhetsky

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

54

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP

L. Žídková, J. Krijt, J. Sládková, A. Hlobilková, M. Magner, M. Zikánová, S. Kmoch, D. Friedecký, J. Zeman, M. Elleder, T. Adam

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 252 KB

english, 2010

55

Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency

Lydia K. Vliet, Terry G. Wilkinson II, Nathan Duval, Guido Vacano, Christine Graham, Marie Zikánová, Vaclava Skopova, Veronika Baresova, Aleš Hnízda, Stanislav Kmoch, David Patterson

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 854 KB

english, 2011

56

Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic Heterogeneity

Blanka Stibůrková, Jacek Majewski, Ivan Šebesta, Wenyong Zhang, Jurg Ott, Stanislav Kmoch

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 110 KB

english, 2000

57

Self-harming behavior, pain and body perception in patients with eating disorder

V. Kmoch, H. Papezova, A. Yamamotova

Journal:

European Psychiatry

Year:

2007

Language:

english

File:

PDF, 47 KB

english, 2007

58

Gout: A Step Forward

Bleyer, Anthony J., Kmoch, Stanislav

Journal:

Advances in Chronic Kidney Disease

Year:

2012

Language:

english

File:

PDF, 43 KB

english, 2012

59

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses

Kmoch, Stanislav, Stránecký, Viktor, Emes, Richard D., Mitchison, Hannah M.

Journal:

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

Year:

2013

Language:

english

File:

PDF, 720 KB

english, 2013

60

HIF and reactive oxygen species regulate oxidative phosphorylation in cancer

Hervouet, E., Cizkova, A., Demont, J., Vojtiskova, A., Pecina, P., Franssen-van Hal, N. L.W., Keijer, J., Simonnet, H., Ivanek, R., Kmoch, S., Godinot, C., Houstek, J.

Journal:

Year:

2008

Language:

english

File:

PDF, 585 KB

english, 2008

61

The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers

Krijt, Jakub, Skopova, Vaclava, Adamkova, Vaclava, Cermakova, Renata, Jurecka, Agnieszka, Kmoch, Stanislav, Zikanova, Marie

Journal:

Clinical Biochemistry

Year:

2013

Language:

english

File:

PDF, 323 KB

english, 2013

62

Total Body Radioautography of Hamsters Exposed to 14C-Labeled Cigarette Smoke

Kmoch, Norbert, Mohr, Ulrich, Patzscke, Karl

Journal:

International Journal of Nuclear Medicine and Biology

Year:

1975

Language:

english

File:

PDF, 2.34 MB

english, 1975

63

Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: Cellular models of de novo purine biosynthesis deficiency disorders

Duval, Nathan, Luhrs, Kyleen, Wilkinson, Terry G., Baresova, Veronika, Skopova, Vaclava, Kmoch, Stanislav, Vacano, Guido N., Zikanova, Marie, Patterson, David

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.82 MB

english, 2013

64

Evaluation of postgraduate studies in Czech Republic: Current situation and perspectives

Nawka, A., Kmoch, V., Novak, T., Janu, L., Tislerova, B., Rackova, S., Vevera, J.

Journal:

European Psychiatry

Year:

2008

Language:

english

File:

PDF, 42 KB

english, 2008

65

Hereditary Interstitial Kidney Disease

Bleyer, Anthony J., Hart, P. Suzanne, Kmoch, Stanislav

Journal:

Seminars in Nephrology

Year:

2010

Language:

english

File:

PDF, 397 KB

english, 2010

66

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations

Kovarova, N., Cizkova - Vrbacka, A., Pecina, P., Stranecky, V., Pronicka, E., Kmoch, S., Houstek, J.

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

67

Localization and orientation of TMEM70 protein in the inner mitochondrial membrane

Hejzlarová, K., Kratochvílová, H., Mráček, T., Tesařová, M., Vrbacká-Čížková, A., Vrbacký, M., Hartmannová, H., Kaplanová, V., Nosková, L., Buzková, J., Havlíčková-Karbanová, V., Zeman, J., Kmoch, S.,

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2012

Language:

english

File:

PDF, 44 KB

english, 2012

68

Carcinogenic effects of different nitroso-compounds in chinese hamsters: N-dibutylnitrosamine and N-nitrosomethylurea

Reznik, Gerd, Mohr, Ulrich, Kmoch, Norbert

Journal:

Year:

1975

Language:

english

File:

PDF, 264 KB

english, 1975

69

Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene

Hartmannova, H., Kubanek, M., Sramko, M., Piherova, L., Noskova, L., Hodanova, K., Stranecky, V., Pristoupilova, A., Sovova, J., Marek, T., Maluskova, J., Ridzon, P., Kautzner, J., Hulkova, H., Kmoch,

Journal:

Circulation Cardiovascular Genetics

Year:

2013

Language:

english

File:

PDF, 1.19 MB

english, 2013

70

Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography

Journal:

Human Molecular Genetics

Year:

2000

Language:

english

File:

PDF, 1.31 MB

english, 2000

71

[ACM Press the 16th ACM Symposium - Kyoto, Japan (2009.11.18-2009.11.20)] Proceedings of the 16th ACM Symposium on Virtual Reality Software and Technology - VRST '09 - Haptic interaction with one-dimensional structures

Bonanni, Ugo, Kmoch, Petr, Magnenat-Thalmann, Nadia

Year:

2009

Language:

english

File:

PDF, 1.32 MB

english, 2009

72

Computing Devices

Review by: Henry S. Kepner Jr. and Kmoch

Journal:

Mathematics Teacher

Year:

1978

Language:

english

File:

PDF, 534 KB

english, 1978

73

[IEEE 2009 11th IEEE International Conference on Computer-Aided Design and Computer Graphics (CAD/Graphics) - Huangshan, China (2009.08.19-2009.08.21)] 2009 11th IEEE International Conference on Computer-Aided Design and Computer Graphics - Tool-based hairstyling metaphors

Bonanni, Ugo, Magnenat-Thalmann, Nadia, Kmoch, Petr

Year:

2009

Language:

english

File:

PDF, 234 KB

english, 2009

74

Analysis of Excretion Fraction of Uric Acid

Stibůrková, B., Pospíšilová, E., Kmoch, S., Šebesta, I.

Journal:

Nucleosides Nucleotides & Nucleic Acids

Year:

2006

Language:

english

File:

PDF, 87 KB

english, 2006

75

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots

Zikanova, Marie, Krijt, Jakub, Skopova, Vaclava, Krijt, Matyas, Baresova, Veronika, Kmoch, Stanislav

Journal:

Clinical Biochemistry

Year:

2015

Language:

english

File:

PDF, 806 KB

english, 2015

76

[IEEE 5th ACIS International Conference on Software Engineering Research, Management & Applications (SERA 2007) - Busan, Korea (2007.08.20-2007.08.22)] 5th ACIS International Conference on Software Engineering Research, Management & Applications (SERA 2007) - Runtime Support for Advanced Component Concepts

Bures, Tomas, Hnetynka, Petr, Plasil, Frantisek, Klesnil, Jan, Kmoch, Ondrej, Kohan, Tomas, Kotrc, Pavel

Year:

2007

Language:

english

File:

PDF, 302 KB

english, 2007

77

Flicker due to space charge

Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I. M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., P

Journal:

Journal of the Institution of Electrical Engineers

Year:

1958

Language:

english

File:

PDF, 290 KB

english, 1958

78

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I. M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., P

Journal:

Nature Communications

Year:

2015

Language:

english

File:

PDF, 2.17 MB

english, 2015

79

Uromodulin-Associated Kidney Disease

Bleyer, Anthony J., Živná, Martina, Kmoch, Stanislav

Journal:

Nephron Clinical Practice

Year:

2011

Language:

english

File:

PDF, 127 KB

english, 2011

80

Adenylosuccinate lyase deficiency

Jurecka, Agnieszka, Zikanova, Marie, Kmoch, Stanislav, Tylki-Szymańska, Anna

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 935 KB

english, 2015

81

Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy

Neřoldová, M., Fraňková, S., Stránecký, V., Honsová, E., Lukšan, O., Beneš, M., Michalová, K., Kmoch, S., Jirsa, M.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 728 KB

english, 2015

82

Uromodulin Biology and Pathophysiology – An Update

Vyletal, Petr, Bleyer, Anthony J., Kmoch, Stanislav

Journal:

Kidney & Blood Pressure Research

Year:

2010

Language:

english

File:

PDF, 378 KB

english, 2010

83

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report

Eckardt, Kai-Uwe, Alper, Seth L, Antignac, Corinne, Bleyer, Anthony J, Chauveau, Dominique, Dahan, Karin, Deltas, Constantinos, Hosking, Andrew, Kmoch, Stanislav, Rampoldi, Luca, Wiesener, Michael, Wo

Journal:

Kidney International

Year:

2015

Language:

english

File:

PDF, 154 KB

english, 2015

84

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients

Journal:

Human Molecular Genetics

Year:

2000

Language:

english

File:

PDF, 1006 KB

english, 2000

85

Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency

Baresova, V., Skopova, V., Sikora, J., Patterson, D., Sovova, J., Zikanova, M., Kmoch, S.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 425 KB

english, 2012

86

[ACM Press Computer Graphics International - Victoria, British Columbia, Canada (2009.05.26-2009.05.29)] Computer Graphics International on - CGI '09 - Hair simulation model for real-time environments

Kmoch, P., Bonanni, U., Magnenat-Thalmann, N.

Year:

2009

Language:

english

File:

PDF, 2.93 MB

english, 2009

87

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

Honzik, T., Tesarova, M., Mayr, J. A, Hansikova, H., Jesina, P., Bodamer, O., Koch, J., Magner, M., Freisinger, P., Huemer, M., Kostkova, O., van Coster, R., Kmoch, S., Houstek, J., Sperl, W., Zeman,

Journal:

Archives of Disease in Childhood

Year:

2010

Language:

english

File:

PDF, 154 KB

english, 2010

88

The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?

Andresen, B. S., Bross, P., Udvari, S., Kirk, J., Gray, G., Kmoch, S., Chamoles, N., Knudsen, I., Winter, V., Wilcken, B., Yokota, I., Hart, K., Packman, S., Harpey, J. P., Saudubray, J. M., Hale, D.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 210 KB

english, 1997

89

Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1

Bleyer, A. J., Kmoch, S., Antignac, C., Robins, V., Kidd, K., Kelsoe, J. R., Hladik, G., Klemmer, P., Knohl, S. J., Scheinman, S. J., Vo, N., Santi, A., Harris, A., Canaday, O., Weller, N., Hulick, P.

Journal:

Clinical Journal of the American Society of Nephrology

Year:

2014

Language:

english

File:

PDF, 881 KB

english, 2014

90

Autosomal dominant tubulointerstitial kidney disease: of names and genes

Bleyer, Anthony J, Kmoch, Stanislav

Journal:

Kidney International

Year:

2014

Language:

english

File:

PDF, 128 KB

english, 2014

91

Amino acid polymorphism (Gly209Ser) in the ACADS gene

Kristensen, M.J., Kmoch, S., Bross, P., Andresen, B.S., Gregersen, N.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 104 KB

english, 1994

92

[ACM Press the twenty-fifth SIGCSE symposium - Phoenix, Arkansas, United States (1994.03.10-1994.03.12)] Proceedings of the twenty-fifth SIGCSE symposium on Computer science education - SIGCSE '94 - The creation and use of scoring standards (rubrics)

Kmoch, Joseph W., Stehlik, Mark

Year:

1994

Language:

english

File:

PDF, 87 KB

english, 1994

93

Changes in the advanced placement computer science course

Nevison, Christopher H., Kmoch, Joe, Noonan, Robert E., Corica, Tim, Fix, Sarah, Kay, David G.

Journal:

ACM SIGCSE Bulletin

Year:

1995

Language:

english

File:

PDF, 141 KB

english, 1995

94

[ACM Press the twenty-fifth SIGCSE symposium - Phoenix, Arkansas, United States (1994.03.10-1994.03.12)] Proceedings of the twenty-fifth SIGCSE symposium on Computer science education - SIGCSE '94 - Case studies in the advanced placement computer science curriculum (abstract)

Chapman, Gail, Fix, Sarah, Astrachan, Owen, Kmoch, Joseph, Clancy, Michael

Year:

1994

Language:

english

File:

PDF, 83 KB

english, 1994

95

How to develop and grade an exam for 20,000 students (or maybe just 200 or 20)

Hunt, Fran, Kmoch, Joe, Nevison, Chris, Rodger, Susan, Zelenski, Julie

Journal:

ACM SIGCSE Bulletin

Year:

2002

Language:

english

File:

PDF, 99 KB

english, 2002

96

[ACM Press the 42nd ACM technical symposium - Dallas, TX, USA (2011.03.09-2011.03.12)] Proceedings of the 42nd ACM technical symposium on Computer science education - SIGCSE '11 - NCATE standards for preparation of secondary computer science teachers

East, J. Philip, Bentley, Charmaine, Kmoch, Joe, Rainwater, Stephen, Stephenson, Chris

Year:

2011

Language:

english

File:

PDF, 416 KB

english, 2011

97

[ACM Press the twenty-sixth SIGCSE technical symposium - Nashville, Tennessee, United States (1995.03.02-1995.03.04)] Proceedings of the twenty-sixth SIGCSE technical symposium on Computer science education - SIGCSE '95 - Changes in the advanced placement computer science course

Nevison, Christopher H., Kmoch, Joe, Noonan, Robert E., Corica, Tim, Fix, Sarah, Kay, David G.

Year:

1995

Language:

english

File:

PDF, 141 KB

english, 1995

98

[ACM Press the 33rd SIGCSE technical symposium - Cincinnati, Kentucky (2002.02.27-2002.03.03)] Proceedings of the 33rd SIGCSE technical symposium on Computer science education - SIGCSE '02 - How to develop and grade an exam for 20,000 students (or maybe just 200 or 20)

Hunt, Fran, Kmoch, Joe, Nevison, Chris, Rodger, Susan, Zelenski, Julie

Year:

2002

Language:

english

File:

PDF, 99 KB

english, 2002

99

[ACM Press the twenty-first SIGCSE technical symposium - Washington, D.C., United States (1990..-..)] Proceedings of the twenty-first SIGCSE technical symposium on Computer science education - SIGCSE '90 - Roundtable on structure editing (panel session)

Goldenson, Dennis R., Werth, Laurie, Brown, Michael, Bruemmer, Jane, Hull, Nathan, Jones, Roy, McClellan, Bruce, Kmoch, Joseph, Miller, Phillip, Stehlik, Mark

Year:

1990

Language:

english

File:

PDF, 105 KB

english, 1990

100

[ACM Press the 26th Spring Conference - Budmerice, Slovakia (2010.05.13-2010.05.15)] Proceedings of the 26th Spring Conference on Computer Graphics - SCCG '10 - Real-time spectral scattering in large-scale natural participating media

Elek, Oskar, Kmoch, Petr

Year:

2010

Language:

english

File:

PDF, 8.82 MB

english, 2010