Publications by authors named "Jan Mucha"

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Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway.
Carlota Pascoal, Pedro Granjo, Rebeka Kodríková, Marta Falcão, Ana C Santos, Jan Mucha

Front Immunol· October 2025

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Dysarthria Assessment Across Spain: A Survey Study of Tools, Practices, and Needs.
Neus Calaf, Jiri Mekyska, Jan Mucha, Marcos Faundez-Zanuy

Int J Lang Commun Disord· September 2025

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-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant.
Rebeka Kodríková, Zuzana Pakanová, Maroš Krchňák, Mária Šedivá, Sergej Šesták, Ján Mucha

Biomedicines· February 2023

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The Application of HPLC-FLD and NMR in the Monitoring of Therapy Efficacy in Alpha-Mannosidosis.
Maroš Krchňák, Rebeka Kodríková, Mária Matulová, Marek Nemčovič, Iveta Uhliariková, Ján Mucha

Front Biosci (Landmark Ed)· February 2023

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Comparison of CNN-Learned vs. Handcrafted Features for Detection of Parkinson's Disease Dysgraphia in a Multilingual Dataset.
Zoltan Galaz, Peter Drotar, Jiri Mekyska, Matej Gazda, Jan Mucha

Front Neuroinform· May 2022

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A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Jana Ziburová, Marek Nemčovič, Sergej Šesták, Jana Bellová, Zuzana Pakanová, Ján Mucha

Am J Med Genet A· November 2021

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Articulatory network reorganization in Parkinson's disease as assessed by multimodal MRI and acoustic measures.
Patricia Klobusiakova, Jiri Mekyska, Lubos Brabenec, Zoltan Galaz, Vojtech Zvoncak, Jan Mucha

Parkinsonism Relat Disord· March 2021

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The usefulness of determination of the procalcitonin (PCT) concentration in GBS piositive pregnant womens blood serum for anticipations of infections in newborns.
Wojciech Cnota, Dominika Mucha, Jan Mucha

Przegl Epidemiol· July 2019

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Non-invasive stimulation of the auditory feedback area for improved articulation in Parkinson's disease.
Lubos Brabenec, Patricia Klobusiakova, Marek Barton, Jiri Mekyska, Zoltan Galaz, Jan Mucha

Parkinsonism Relat Disord· April 2019

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Quantitative Analysis of Relationship Between Hypokinetic Dysarthria and the Freezing of Gait in Parkinson's Disease.
Jiri Mekyska, Zoltan Galaz, Tomas Kiska, Vojtech Zvoncak, Jan Mucha

Cognit Comput· June 2018

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Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX.
Nina Ondruskova, Tomas Honzik, Hana Kolarova, Zuzana Pakanova, Jan Mucha

Metabolism· May 2018

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Sweet characterisation of prostate specific antigen using electrochemical lectin-based immunosensor assay and MALDI TOF/TOF analysis: Focus on sialic acid.
Dominika Pihikova, Zuzana Pakanova, Marek Nemcovic, Peter Barath, Stefan Belicky, Jan Mucha

Proteomics· December 2016

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Characterisation of class I and II α-mannosidases from Drosophila melanogaster.
Ivana Nemčovičová, Sergej Šesták, Dubravko Rendić, Margita Plšková, Ján Mucha

Glycoconj J· December 2013

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Distantly related plant and nematode core α1,3-fucosyltransferases display similar trends in structure-function relationships.
Peter Both, Lukas Sobczak, Christelle Breton, Stephan Hann, Katharina Nöbauer, Ján Mucha

Glycobiology· November 2011

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α-D-mannose derivatives as models designed for selective inhibition of Golgi α-mannosidase II.
Monika Poláková, Sergej Šesták, Erika Lattová, Ladislav Petruš, Ján Mucha

Eur J Med Chem· March 2011

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Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.
Barbara Tappino, Nadia A Chuzhanova, Stefano Regis, Andrea Dardis, Fabio Corsolini, Jan Mucha

Hum Mutat· November 2009

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[Genital warts associated with HPV infection during II and III trimester of pregnancy--a case report and analysis of treatment options].
Wioletta Rozmus-Warcholińska, Tomasz Loch, Bartosz Czuba, Urszula Mazurek, Jan Mucha

Ginekol Pol· November 2007

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Arabidopsis thaliana beta1,2-xylosyltransferase: an unusual glycosyltransferase with the potential to act at multiple stages of the plant N-glycosylation pathway.
Peter Bencúr, Herta Steinkellner, Barbara Svoboda, Jan Mucha, Richard Strasser

Biochem J· June 2005

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The Drosophila melanogaster homologue of the human histo-blood group Pk gene encodes a glycolipid-modifying alpha1,4-N-acetylgalactosaminyltransferase.
Ján Mucha, Jirí Domlatil, Günter Lochnit, Dubravko Rendić, Katharina Paschinger

Biochem J· August 2004

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Tracking interactions that stabilize the dimer structure of starch phosphorylase from Corynebacterium callunae. Roles of Arg234 and Arg242 revealed by sequence analysis and site-directed mutagenesis.
Richard Griessler, Alexandra Schwarz, Jan Mucha, Bernd Nidetzky

Eur J Biochem· May 2003

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Functional expression of a cDNA encoding pea (Pisum sativum L.) raffinose synthase, partial purification of the enzyme from maturing seeds, and steady-state kinetic analysis of raffinose synthesis.
Thomas Peterbauer, Lukas Mach, Jan Mucha, Andreas Richter

Planta· September 2002

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Two closely related forms of UDP-GlcNAc: alpha6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II occur in the clawed frog Xenopus laevis.
Jan Mucha, Barbara Svoboda, Sonja Kappel, Richard Strasser, Peter Bencur

Glycoconj J· March 2002

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Chain Elongation of raffinose in pea seeds. Isolation, characterization, and molecular cloning of mutifunctional enzyme catalyzing the synthesis of stachyose and verbascose.
Thomas Peterbauer, Jan Mucha, Lukas Mach, Andreas Richter

J Biol Chem· January 2002

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