Výsledky vyhledávání - Anna Kostera‐Pruszczyk

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  1. 1
    Determinants of Quality of Life in Myasthenia Gravis Patients

    Determinants of Quality of Life in Myasthenia Gravis Patients Autor Piotr Szczudlik, Ewa Sobieszczuk, Beata Szyluk, Marta Lipowska, Justyna Kubiszewska, Anna Kostera‐Pruszczyk

    Vydáno 2020
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  2. 2
    Prevalence and impact of autoimmune thyroid disease on myasthenia gravis course

    Prevalence and impact of autoimmune thyroid disease on myasthenia gravis course Autor Justyna Kubiszewska, Beata Szyluk, Piotr Szczudlik, Zbigniew Bartoszewicz, M Raczkowska, Maksymilian Bielecki, Tomasz Bednarczuk, Anna Kostera‐Pruszczyk

    Vydáno 2016
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  3. 3
    Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy

    Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy Autor Anna Łusakowska, Maria Jędrzejowska, Anna Kaminśka, Katarzyna Janiszewska, Przemysław Grochowski, Janusz Zimowski, Janusz Sierdziński, Anna Kostera‐Pruszczyk

    Vydáno 2021
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  4. 4
    Antititin antibody in early- and late-onset myasthenia gravis

    Antititin antibody in early- and late-onset myasthenia gravis Autor Piotr Szczudlik, Beata Szyluk, Marta Lipowska, Barbara Ryniewicz, Justyna Kubiszewska, M Raczkowska, Nils Erik Gilhus, Anna Kostera‐Pruszczyk

    Vydáno 2014
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  5. 5
    Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience

    Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience Autor Anna Łusakowska, Adrianna Wójcik, Anna Frączek, Karolina Aragon-Gawińska, Anna Potulska‐Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, Anna Kostera‐Pruszczyk

    Vydáno 2023
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  6. 6
    European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy

    European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy Autor Janbernd Kirschner, Nina Butoianu, Nathalie Goemans, Jana Haberlová, Anna Kostera‐Pruszczyk, Eugenio Mercuri, W. Ludo van der Pol, Susana Quijano‐Roy, Thomas Sejersen, Eduardo F. Tizzano, Andreas Ziegler, Laurent Servais, Francesco Muntoni

    Vydáno 2020
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  7. 7
    JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam

    JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam Autor Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera‐Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martín, R. Scalco, Paulo Fontoura, Francesco Muntoni

    Vydáno 2024
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  8. 8
    Consensus-based care recommendations for adults with myotonic dystrophy type 2

    Consensus-based care recommendations for adults with myotonic dystrophy type 2 Autor Benedikt Schoser, Federica Montagnese, Guillaume Bassez, Barbara Fossati, Josep Gámez, Chad Heatwole, James E. Hilbert, Cornelia Kornblum, Anna Kostera‐Pruszczyk, Ralf Krahe, Anna Łusakowska, G. Meola, Richard T. Moxley, Charles A. Thornton, Bjarne Udd, Paul Formaker

    Vydáno 2019
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  9. 9
    Role of autoantibody levels as biomarkers in the management of patients with myasthenia gravis: A systematic review and expert appraisal

    Role of autoantibody levels as biomarkers in the management of patients with myasthenia gravis: A systematic review and expert appraisal Autor Andreas Meisel, Fulvio Baggi, Anthony Béhin, Amelia Evoli, Anna Kostera‐Pruszczyk, Renato Mantegazza, Raúl Juntas Morales, Anna Rostedt Punga, Sabrina Sacconi, Michael Schroeter, Jan J.G.M. Verschuuren, Louise Crathorne, Kris Holmes, Maria‐Isabel Leite

    Vydáno 2022
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  10. 10
    2024 update: European consensus statement on gene therapy for spinal muscular atrophy

    2024 update: European consensus statement on gene therapy for spinal muscular atrophy Autor Janbernd Kirschner, G. Bernert, Nina Butoianu, Liesbeth De Waele, Aviva Fattal‐Valevski, Jana Haberlová, T. Moreno, Andrea Klein, Anna Kostera‐Pruszczyk, Eugenio Mercuri, Susana Quijano‐Roy, Thomas Sejersen, Eduardo F. Tizzano, W. Ludo van der Pol, Sean Wallace, Dimitrios Zafeiriou, Andreas Ziegler, Francesco Muntoni, Laurent Servais

    Vydáno 2024
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  11. 11
    Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)

    Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA) Autor Maryam Oskoui, John Day, Nicolas Deconinck, Elena Mazzone, A. Nascimento, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Nathalie Goemans, Janbernd Kirschner, Anna Kostera‐Pruszczyk, Laurent Servais, G. Papp, Ksenija Gorni, Heidemarie Kletzl, Carmen Martín, Tammy McIver, R. Scalco, Hannah Staunton, Wai Yin Yeung, Paulo Fontoura, Eugenio Mercuri

    Vydáno 2023
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  12. 12
    Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations

    Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations Autor Michael F. Seldin, Omar K. Alkhairy, Annette T. Lee, Janine A. Lamb, Jon Sussman, R. Pirskanen‐Matell, Fredrik Piehl, Jan J.G.M. Verschuuren, Anna Kostera‐Pruszczyk, Piotr Szczudlik, David McKee, Angelina Maniaol, Hanne F. Harbo, Benedicte A. Lie, Arthur Melms, Henri-Jean Garchon, Nicholas Willcox, Peter K. Gregersen, Lennart Hammarström

    Vydáno 2015
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  13. 13
    European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

    European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences Autor Julia Vry, K. Gramsch, Sunil Rodger, Rachel Thompson, Birgit F. Steffensen, Jes Rahbek, Sam Doerken, Adrian Tassoni, M. Beytia, Velina Guergueltcheva, Teodora Chamova, Ivailo Tournev, Anna Kostera‐Pruszczyk, Anna Kamińska, Anna Łusakowska, Lenka Mrázová, Lenka Pavlovská, Jana Strenková, Petr Vondráček, Miklós Garami, Veronika Karcagi, Ágnes Herczegfalvi, K. Bushby, Hanns Lochmüller, Janbernd Kirschner

    Vydáno 2016
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  14. 14
    Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy

    Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy Autor Kathryn R. Wagner, Hoda Abdel‐Hamid, Jean K. Mah, Craig Campbell, Michela Guglieri, Francesco Muntoni, Yasuhiro Takeshima, Craig M. McDonald, Anna Kostera‐Pruszczyk, Peter Karachunski, Russell J. Butterfield, Eugenio Mercuri, Chiara Fiorillo, Enrico Bertini, Cuixia Tian, Jeffrey Statland, Alesia Sadosky, Vivek S. Purohit, Sarah P. Sherlock, Jeffrey Palmer, Michael Binks, Lawrence Charnas, Shannon Marraffino, Brenda Wong

    Vydáno 2020
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  15. 15
    P.025 Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in participants with late-onset Pompe disease (LOPD)

    P.025 Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in participants with late-onset Pompe disease (LOPD) Autor Mark A. Tarnopolsky, Sharham Attarian, J. Borges, Françoise Bouhour, Yungi Choi, P Clemens, John Day, Jordi Díaz‐Manera, Sevim Erdem‐Özdamar, Özlem Göker-Alpan, С. Н. Иллариошкин, PS Kishnani, Anna Kostera‐Pruszczyk, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Mark Roberts, Volker Straub, António Toscano, A. van der Ploeg, Kristina An Haack, C. Hug, Olivier Huynh-Ba, Jessica Johnson, Ting Zhou, MM Dimachkie, Benedikt Schoser

    Vydáno 2021
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  16. 16
    2595 Efficacy and safety of avalglucosidase Alfa in participants with late-onset pompe disease after 145 weeks’ treatment: phase 3 COMET trial

    2595 Efficacy and safety of avalglucosidase Alfa in participants with late-onset pompe disease after 145 weeks’ treatment: phase 3 COMET trial Autor Robert D. Henderson, Benedikt Schoser, Priya S. Kishnani, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub, António Toscano, Ans T. van der Ploeg, Paula R. Clemens, John Day, С. Н. Иллариошкин, Mark Roberts, Shahram Attarian, Gérson Carvalho, Sevim Erdem‐Özdamar, Özlem Göker-Alpan, Anna Kostera‐Pruszczyk, Kristina An Haack, Olivier Huynh-Ba, Swathi Tammireddy, Nathan Thibault, Tianyue Zhou, Jordi Díaz‐Manera, Mazen M. Dimachkie

    Vydáno 2023
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  17. 17
    2285 Efficacy and safety of avalglucosidase alfa in participants with late-onset pompe disease after 97 weeks of treatment during the COMET trial

    2285 Efficacy and safety of avalglucosidase alfa in participants with late-onset pompe disease after 97 weeks of treatment during the COMET trial Autor Robert D. Henderson, Priya S. Kishnani, Jordi Díaz‐Manera, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub, António Toscano, Ans T. van der Ploeg, Kenneth I. Berger, Paula R. Clemens, Yin‐Hsiu Chien, John Day, С. Н. Иллариошкин, Mark Roberts, Shahram Attarian, Gérson Carvalho, Young‐Chul Choi, Sevim Erdem‐Özdamar, Özlem Göker-Alpan, Anna Kostera‐Pruszczyk, Kristina An Haack, Olivier Huynh-Ba, Swathi Tammireddy, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser

    Vydáno 2022
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  18. 18
    A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis

    A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis Autor Paraskevi Zisimopoulou, Panagiota Evangelakou, John Tzartos, Konstantinos Lazaridis, Vasiliki Zouvelou, Renato Mantegazza, Carlo Antozzi, Francesca Andreetta, Amelia Evoli, Feza Deymeer, Güher Saruhan‐Direskeneli, Hacer Durmuş, Talma Brenner, Adi Vaknin, Sonia Berrih‐Aknin, M. Frenkian Cuvelier, Tanya Stojkovic, M. DeBaets, Mario Losen, Pilar Martínez‐Martínez, Kleopas A. Kleopa, Eleni Zamba‐Papanicolaou, Theodoros Kyriakides, Anna Kostera‐Pruszczyk, Piotr Szczudlik, Beata Szyluk, Dragana Lavrnić, Ivana Basta, Stojan Perić, Chantal Tallaksen, Angelina Maniaol, Socrates J. Tzartos

    Vydáno 2013
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  19. 19
    MuSK autoantibodies in myasthenia gravis detected by cell based assay — A multinational study

    MuSK autoantibodies in myasthenia gravis detected by cell based assay — A multinational study Autor Anastasios Tsonis, Paraskevi Zisimopoulou, Konstantinos Lazaridis, John Tzartos, Eirini Matsigkou, Vasiliki Zouvelou, Renato Mantegazza, Carlo Antozzi, Francesca Andreetta, Amelia Evoli, Feza Deymeer, Güher Saruhan‐Direskeneli, Hacer Durmuş, Talma Brenner, Adi Vaknin, Sonia Berrih‐Aknin, Anthony Béhin, Tarek Sharshar, Marc De Baets, Mario Losen, Pilar Martínez‐Martínez, Kleopas A. Kleopa, Eleni Zamba‐Papanicolaou, Theodoros Kyriakides, Anna Kostera‐Pruszczyk, Piotr Szczudlik, Beata Szyluk, Dragana Lavrnić, Ivana Basta, Stojan Perić, Chantal Tallaksen, Angelina Maniaol, Carlos Casasnovas, Jiří Piťha, Michala Jakubíková, F. Hanisch, Socrates J. Tzartos

    Vydáno 2015
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  20. 20
    Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

    Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb... Autor Katherine Johnson, Marta Bértoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera‐Pruszczyk, Anna Potulska‐Chromik, Nicolas Deconinck, Carina Wallgren‐Pettersson, Sonja Strang‐Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández‐Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmuş, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub

    Vydáno 2018
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