Search Results - "Turcanova Koprusakova, Monika"

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    Prevalence of non‐motor symptoms and their association with quality of life in cervical dystonia by Han, Vladimir, Skorvanek, Matej, Smit, Marenka, Turcanova Koprusakova, Monika, Hoekstra, Tialda, Dijk, Jitse P., Tijssen, Marina A.J., Gdovinova, Zuzana, Reijneveld, Sijmen A.

    Published in Acta neurologica Scandinavica (01-12-2020)
    “…Objectives Non‐motor symptoms (NMS) are commonly present along with motor impairment in patients with cervical dystonia (CD) and have a significant impact on…”
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    Journal Article
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    Mitochondrial Dysfunction in Sporadic Amyotrophic Lateral Sclerosis Patients: Insights from High-Resolution Respirometry by Parvanovova, Petra, Evinova, Andrea, Grofik, Milan, Hnilicova, Petra, Tatarkova, Zuzana, Turcanova-Koprusakova, Monika

    Published in Biomedicines (11-06-2024)
    “…Amyotrophic lateral sclerosis is a severe neurodegenerative disease whose exact cause is still unclear. Currently, research attention is turning to the…”
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    Disturbances in Muscle Energy Metabolism in Patients with Amyotrophic Lateral Sclerosis by Parvanovova, Petra, Hnilicova, Petra, Kolisek, Martin, Tatarkova, Zuzana, Halasova, Erika, Kurca, Egon, Holubcikova, Simona, Koprusakova, Monika Turcanova, Baranovicova, Eva

    Published in Metabolites (23-06-2024)
    “…Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disease type of motor neuron disorder characterized by degeneration of the upper and lower motor…”
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    The influence of levodopa, entacapone and homocysteine on prevalence of polyneuropathy in patients with Parkinson's disease by Grofik, Milan, Sivák, Štefan, Nosáľ, Vladimír, Turčanová Koprušáková, Monika, Michalik, Jozef, Čierny, Daniel, Tatarková, Zuzana, Kurča, Egon

    Published in Journal of the neurological sciences (15-09-2018)
    “…•Parkinson's disease (PD) is a chronic progressive disease of the nervous system.•Recently, there has been a growing amount of evidence about peripheral…”
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    Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report by Turčanová Koprušáková, Monika, Grofik, Milan, Kantorová, Ema, Jungová, Petra, Chandoga, Ján, Kolisek, Martin, Valkovič, Peter, Škorvánek, Matej, Ploski, Rafal, Kurča, Egon, Sivák, Štefan

    Published in BMC neurology (27-07-2021)
    “…Abstract Background Charcot-Marie-Tooth 1C (CMT1C) is a rare form of dominantly inherited CMT1 neuropathy caused by a mutated gene encoding…”
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    Proton magnetic resonance spectroscopy in patients with early stages of amyotrophic lateral sclerosis by Sivák, Štefan, Bittšanský, Michal, Kurča, Egon, Turčanová-Koprušáková, Monika, Grofik, Milan, Nosáľ, Vladimír, Poláček, Hubert, Dobrota, Dušan

    Published in Neuroradiology (01-12-2010)
    “…Introduction Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder primarily affecting upper and lower motor neurons. Due to relative…”
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    Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder by Blackburn, Patrick R, Ebstein, Frédéric, Hsieh, Tzung-Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C, Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gerard, Bénédicte, Smol, Thomas, Vincent-Delorme, Catherine, Cogné, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann-Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne-Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S, Rosenfeld, Jill A, Faivre, Laurence, Mau-Them, Frederic Tran, Deb, Wallid, Vignard, Virginie, Agrawal, Pankaj B, Madden, Jill A, Goldenberg, Alice, Lecoquierre, François, Zech, Michael, Prokisch, Holger, Necpál, Ján, Jech, Robert, Winkelmann, Juliane, Koprušáková, Monika Turčanová, Konstantopoulou, Vassiliki, Younce, John R, Shinawi, Marwan, Mighton, Chloe, Fung, Charlotte, Morel, Chantal F, Lerner-Ellis, Jordan, DiTroia, Stephanie, Barth, Magalie, Bonneau, Dominique, Krapels, Ingrid, Stegmann, Alexander P A, van der Schoot, Vyne, Brunet, Theresa, Bußmann, Cornelia, Mignot, Cyril, Zampino, Giuseppe, Wortmann, Saskia B, Mayr, Johannes A, Feichtinger, René G, Courtin, Thomas, Ravelli, Claudia, Keren, Boris, Ziegler, Alban, Hasadsri, Linda, Pichurin, Pavel N, Klee, Eric W, Grand, Katheryn, Sanchez-Lara, Pedro A, Krüger, Elke, Bézieau, Stéphane, Klinkhammer, Hannah, Krawitz, Peter Michael, Eichler, Evan E, Tartaglia, Marco, Küry, Sébastien, Wang, Tianyun

    Published in Annals of neurology (20-09-2024)
    “…De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been…”
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