Výsledky vyhledávání - Mária Judit Molnár

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  1. 1
    A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

    A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions Autor Henna Tyynismaa, Emil Ylikallio, Mehul D. Patel, Mária Judit Molnár, Ronald G. Haller, Anu Suomalainen

    Vydáno 2009
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  2. 2
    Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations

    Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations Autor Zsófia Flóra Nagy, Margit Pál, József I. Engelhardt, Mária Judit Molnár, Péter Klivényi, Márta Széll

    Vydáno 2024
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  3. 3
    Third-generation Sequencing Reveals Extensive Polycistronism and Transcriptional Overlapping in a Baculovirus

    Third-generation Sequencing Reveals Extensive Polycistronism and Transcriptional Overlapping in a Baculovirus Autor Norbert Moldován, Dóra Tombácz, Attila Szűcs, Zsolt Csabai, Zsolt Balázs, Emese Kis, Mária Judit Molnár, Zsolt Boldogkői

    Vydáno 2018
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  4. 4
    Psychiatric symptoms of patients with primary mitochondrial DNA disorders

    Psychiatric symptoms of patients with primary mitochondrial DNA disorders Autor Gabriella Inczédy-Farkas, Viktória Reményi, Anikó Gál, Zsófia Varga, Petra Balla, Ágnes Udvardy-Mészáros, Benjámin Bereznai, Mária Judit Molnár

    Vydáno 2012
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  5. 5
    Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion

    Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion Autor Noémi Ágnes Varga, Klára Pentelényi, Péter Balicza, András Gézsi, Viktória Reményi, Vivien Hársfalvi, Renáta Bencsik, Anett Illés, Csilla Prekop, Mária Judit Molnár

    Vydáno 2018
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  6. 6
    Insights into eye genetics and recent advances in ocular gene therapy

    Insights into eye genetics and recent advances in ocular gene therapy Autor Viktória Szabó, Balázs Varsányi, Mirella Telles Salgueiro Barboni, Ágnes I. Takács, Krisztina Knézy, Mária Judit Molnár, Zoltán Z. Nagy, Bence György, Carlo Rivolta

    Vydáno 2025
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  7. 7
    Factors Influencing the Efficacy, Longevity, and Safety of Electroporation-Assisted Plasmid-Based Gene Transfer into Mouse Muscles

    Factors Influencing the Efficacy, Longevity, and Safety of Electroporation-Assisted Plasmid-Based Gene Transfer into Mouse Muscles Autor Mária Judit Molnár, Rénald Gilbert, Yifan Lu, An‐Bang Liu, Athena Guo, Nancy Larochelle, Kristian Orlopp, Hanns Lochmüller, Basil J. Petrof, Joséphine Nalbantoglu, George Karpati

    Vydáno 2004
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  8. 8
    Efficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophy: Real world data from Hungarian patients

    Efficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophy: Real world data from Hungarian patients Autor Léna Szabó, Anita Gergely, Rita Jakus, András Fogarasi, Zoltán Grosz, Mária Judit Molnár, Ildikó Andor, Orsolya Schulcz, Ádám Goschler, E Medveczky, Dorottya Czövek, Ágnes Herczegfalvi

    Vydáno 2020
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  9. 9
    <scp>MSTO</scp>1 is a cytoplasmic pro‐mitochondrial fusion protein

    <scp>MSTO</scp>1 is a cytoplasmic pro‐mitochondrial fusion protein Autor Anikó Gál, Péter Balicza, David Weaver, Shamim Naghdi, Suresh K. Joseph, Péter Várnai, Tibor Gyuris, Attila Horváth, László Nagy, Erin L. Seifert, Mária Judit Molnár, Gyӧrgy Hajnόczky

    Vydáno 2017
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  10. 10
    Mitochondrial disease and COVID-19: An international cohort study confirms risks and long-term outcomes

    Mitochondrial disease and COVID-19: An international cohort study confirms risks and long-term outcomes Autor Chiara Pizzamiglio, Hallgeir Jonvik, Stefen Brady, Patrick F. Chinnery, Lucía Galán, Gráinne S. Gorman, Alejandro Horga, Rita Horváth, Mirian C. H. Janssen, Albert Lim, Michelangelo Mancuso, Robert McFarland, Mária Judit Molnár, Olimpia Musumeci, Victoria Nesbitt, Wladimir, Guido Primiano, Ernestina Santos, Serenella Servidei, Rhys H. Thomas, Michael G. Hanna, Pedro Machado, Robert D. S. Pitceathly

    Vydáno 2021
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  11. 11
    Discovery of I-BRD9, a Selective Cell Active Chemical Probe for Bromodomain Containing Protein 9 Inhibition

    Discovery of I-BRD9, a Selective Cell Active Chemical Probe for Bromodomain Containing Protein 9 Inhibition Autor Natalie H. Theodoulou, Paul Bamborough, Andrew J. Bannister, Isabelle Becher, Rino A. Bit, Ka Hing, Chun‐wa Chung, Antje Dittmann, Gerard Drewes, David H. Drewry, Laurie Gordon, Paola Grandi, Melanie Leveridge, Matthew Lindon, Anne‐Marie Michon, Mária Judit Molnár, Samuel C. Robson, Nicholas C. O. Tomkinson, Tony Kouzarides, Rab K. Prinjha, P. G. Humphreys

    Vydáno 2015
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  12. 12
    Rare variants in β-Amyloid precursor protein (APP) and Parkinson’s disease

    Rare variants in β-Amyloid precursor protein (APP) and Parkinson’s disease Autor Eva C. Schulte, Akio Fukumori, Brit Mollenhauer, Hyun Hor, Thomas Arzberger, Robert Perneczky, Alexander Kurz, Janine Diehl‐Schmid, Michael Hüll, Peter Lichtner, Gertrud Eckstein, Alexander Zimprich, Dietrich Haubenberger, Walter Pirker, Thomas Brücke, Benjámin Bereznai, Mária Judit Molnár, Oswaldo Lorenzo‐Betancor, Pau Pástor, Annette Peters, Christian Gieger, Xavier Estivill, Thomas Meitinger, Hans A. Kretzschmar, Claudia Trenkwalder, Christian Haass, Juliane Winkelmann

    Vydáno 2015
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  13. 13
    Factors associated with the severity of <scp>COVID</scp>‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular <scp>COVID</scp>‐19 Registry

    Factors associated with the severity of <scp>COVID</scp>‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular <scp>COVID</scp>‐19 Registry... Autor Chiara Pizzamiglio, Robert D. S. Pitceathly, Michael P. Lunn, Stefen Brady, Fabiola De Marchi, Lucía Galán, Jeannine M. Heckmann, Alejandro Horga, Mária Judit Molnár, Acary Sousa Bulle Oliveira, Wladimir Bocca Vieira de Rezende Pinto, Guido Primiano, Ernestina Santos, Benedikt Schoser, Serenella Servidei, Paulo Victor Sgobbi de Souza, Venugopalan Y. Vishnu, Michael G. Hanna, Mazen M. Dimachkie, Pedro Machado

    Vydáno 2022
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  14. 14
    Management of seizures in patients with primary mitochondrial diseases: consensus statement from the <scp>InterERNs</scp> Mitochondrial Working Group

    Management of seizures in patients with primary mitochondrial diseases: consensus statement from the <scp>InterERNs</scp> Mitochondrial Working Group Autor Michelangelo Mancuso, Maria Papadopoulou, Yi Shiau Ng, Anna Ardissone, Marcello Bellusci, Enrico Bertini, Lidia Di Vito, Teresinha Evangelista, Carmen Fons, Omar Hikmat, Rita Horváth, Thomas Klopstock, Cornelia Kornblum, Costanza Lamperti, Laura Licchetta, Mária Judit Molnár, Kristin N. Varhaug, Mar O’Callaghan, Ronit Pressler, Manuel Schiff, Serenella Servidei, Nora Szabó, Gráinne S. Gorman, J. Helen Cross, Shamima Rahman

    Vydáno 2024
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  15. 15
    The European Reference Network for Rare Neurological Diseases

    The European Reference Network for Rare Neurological Diseases Autor Carola Reinhard, Anne‐Catherine Bachoud‐Lévi, Tobias Bäumer, Enrico Bertini, Alicia Brunelle, Annemieke I. Buizer, Antonio Federico, Thomas Gasser, Samuel Groeschel, Sanja Hermanns, Thomas Klockgether, Ingeborg Krägeloh‐Mann, G. Bernhard Landwehrmeyer, Isabelle Leber, Alfons Macaya, Caterina Mariotti, Wassilios G. Meissner, Mária Judit Molnár, Jorik Nonnekes, Juan Darío Ortigoza‐Escobar, Belén Pérez‐Dueñas, Lori Renna Linton, Lüdger Schöls, R. Schuele, Marina A.J. Tijssen, Rik Vandenberghe, Anna Volkmer, Nicole I. Wolf, Holm Graeßner

    Vydáno 2021
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  16. 16
    Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

    Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALA... Autor Eric Wallace, Özlem Göker-Alpan, William R. Wilcox, Myrl Holida, John Bernat, Nicola Longo, Aleš Linhart, Derralynn Hughes, Robert J. Hopkin, Camilla Tøndel, Mirjam Langeveld, Pilar Giraldo, Antonio Pisani, Dominique P. Germain, Ankit Mehta, Patrick Deegan, Mária Judit Molnár, Damara Ortiz, Ana Jovanović, Michael Muriello, Bruce A. Barshop, Virginia Kimonis, Bojan Vujkovac, Albina Nowak, Tarekegn Geberhiwot, Ilkka Kantola, Jasmine Knoll, Stephen Waldek, Khan Nedd, Amel Karaa, Einat Brill‐Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, Anat Sakov, David G. Warnock

    Vydáno 2023
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  17. 17
    Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy

    Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy Autor Amel Karaa, Enrico Bertini, Valério Carelli, Bruce H. Cohen, Gregory M. Enns, Marni J. Falk, Amy B. Goldstein, Gráinne S. Gorman, Richard Haas, Michio Hirano, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Costanza Lamperti, Anna Lehman, Nicola Longo, Mária Judit Molnár, Sumit Parikh, Han C. Phan, Robert D. S. Pitceathly, Russell P. Saneto, Fernando Scaglia, Serenella Servidei, Mark A. Tarnopolsky, António Toscano, Johan L.K. Van Hove, John Vissing, Jerry Vockley, Jeffrey S. Finman, David A. Brown, James A. Shiffer, Michelango Mancuso, Valentino Maria Lucia, P. Alessandro, Sancricca Cristina, Grosz Zoltan, Györgyi Bathori, Daria Diodato, Gessica Vasco, Soler-Alfonso Claudia, Abdullhameed May Ali, Hanna Michael G, Enrico Bugiardini, Poole Olivia, Kendall Fran, A. Noelle Larson, Nithi Ajantha, Engelstad Kristin, Mattman Andre, M Michelle, Bischoff Alamut T, Büchner Boriana, Radelfahr Florentine, Stendel Claudia, Claudia B. Catarino, Tonni Hilary Elizabeth, Rossman Ian Tait, C. Marie, Victorio Maria Christina, Montano Vincenzo, Siciliano Gabriele, M.O. Musumeci Olimpia, Catania Alessina

    Vydáno 2023
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  18. 18
    104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)

    104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07) Autor Benedikt Schoser, Priya S. Kishnani, Drago Bratkovic, Barry J. Byrne, Kristl G. Claeys, Jordi Díaz‐Manera, Pascal Laforêt, Mark Roberts, António Toscano, Ans T. van der Ploeg, Jeff Castelli, Mitchell Goldman, Fred Holdbrook, Sheela Sitaraman Das, Y. Wasfi, Tahseen Mozaffar, Ágnes Sebök, Alan Pestronk, Aleksandra Dominović-Kovačević, Anzalee Khan, Blaž Koritnik, Céline Tard, Christopher Lindberg, Colin Quinn, Crystal Eldridge, Cynthia Bodkin, David Reyes‐Leiva, Derralynn Hughes, Ela Stefanescu, Emmanuelle Salort‐Campana, Ernest Butler, Françoise Bouhour, Gee Kim, George K. Papadimas, Giancarlo Parenti, Halina Bartosik-Psujek, Hani Kushlaf, Akihiro Hashiguchi, Heather Lau, Hélio Pedro, Henning Andersen, Hernán Amartino, Hideaki Shiraishi, Hiroshi Kobayashi, Ivaylo Tarnev, Jaime Vengoechea, Jennifer Avelar, Jin‐Hong Shin, John Nevin, Jonathan Cauci, Jorge Alonso‐Pérez, József Janszky, Julie Berthy, Cornelia Kornblum, Kristina Gutschmidt, Mária Judit Molnár, Marie Wencel, Mark A. Tarnopolsky, Matthias Boentert, Michel Tchan, Miriam Freimer, Nicola Longo, Nicolas J. Abreu, Nuria Vidal-Fernandez, Olimpia Musumeci, Özlem Göker-Alpan, Patrick Deegan, Paula R. Clemens, Richard Roxburgh, Robert Henderson, Robert J. Hopkin, Sabrina Sacconi, Simona Fecarotta, Shahram Attarian, Stephan Wenninger, Stephanie DeArmey, Tarekegn Hiwot, Thomas Andrew Burrow, Tobias Ruck, Tomo Sawada, Vescei Laszlo, Wolfgang N. Löscher, Yin‐Hsiu Chien

    Vydáno 2024
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  19. 19
    Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

    Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial Autor Jordi Díaz‐Manera, Priya S. Kishnani, 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, João Borges, Francoise Bouhour, Young‐Chul Choi, Sevim Erdem‐Özdamar, Özlem Göker-Alpan, Anna Kostera‐Pruszczyk, Kristina An Haack, Christopher Hug, Olivier Huynh-Ba, Judith Johnson, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser, Anthony Béhin, Matthias Boentert, Gérson Carvalho, Nizar Chahin, Joel Charrow, Patrick Deegan, Hacer Durmuş Tekçe, Fanny Duval, Angela Genge, Ludwig Gutmann, Robert D. Henderson, Julia B. Hennermann, Tarekegn Hiwot, Derralynn Hughes, Amel Karaa, Chafic Karam, Alexandra Kautzky‐Willer, Hirofumi Komaki, Pascal Laforêt, Nicola Longo, Vĕra Malinová, Ricardo Maré, Clarisa Maxit, Eugen Mengel, Maurizio Moggio, Mária Judit Molnár, Tiziana Mongini, Aleksandra Nadaj‐Pakleza, A. Nascimento Osorio, Jean‐Baptiste Noury, Acary Souza Bullé Oliveira, Yeşim Parman, Loren Peña, Gauthier Remiche, Monica Sciacco, Perry B. Shieh, Cheryl J. Smith, Thomas M. Stulnig, Frédéric Taithe, Céline Tard, Mark A. Tarnopolsky, Matthias Vorgerd, Chester B. Whitley, Peter Young, Jorge Alonso‐Pérez, Patricia Altemus, Anne-Catherine Aubé-Nathier, Jennifer Avelar, Carrie Bailey, Can Ebru Bekircan‐Kurt, Jenny Billy, Silvia Boschi, Kathryn E. Brown, Laura Carrera‐García, Lauren Chase, Hamilton Cirne, Loïc Danjoux, Jean‐Baptiste Davion, Stephanie DeArmey, E. Yu. Fedotova, Eve Gandolfo, Zoltán Grosz, Dewi Guellec, Anne-Katrin Guettsches, Michela Guglieri, Erin Hatcher, Sina Helms, Miriam Hufgard‐Leitner, S. A. Klyushnikov, Jacqui Langton, Lenka Linková

    Vydáno 2021
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  20. 20
    Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks

    Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks Autor Priya S. Kishnani, Jordi Díaz‐Manera, António Toscano, Paula R. Clemens, Shafeeq Ladha, Kenneth I. Berger, Hani Kushlaf, Volker Straub, Gérson Carvalho, Tahseen Mozaffar, Mark Roberts, Shahram Attarian, Yin‐Hsiu Chien, Young‐Chul Choi, John Day, Sevim Erdem‐Özdamar, С. Н. Иллариошкин, Özlem Göker-Alpan, Anna Kostera‐Pruszczyk, Ans T. van der Ploeg, Kristina An Haack, Olivier Huynh-Ba, Swathi Tammireddy, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser, Anthony Béhin, Matthias Boentert, Gérson Carvalho, Nizar Chahin, Joel Charrow, Patrick Deegan, Hacer Durmuş Tekçe, Fanny Duval, Angela Genge, Ludwig Gutmann, Robert D. Henderson, Julia B. Hennermann, Tarekegn Hiwot, Derralynn Hughes, Amel Karaa, Chafic Karam, Alexandra Kautzky‐Willer, Hirofumi Komaki, Pascal Laforêt, Nicola Longo, Vĕra Malinová, Ricardo Maré, Clarisa Maxit, Eugen Mengel, Maurizio Moggio, Mária Judit Molnár, Tiziana Mongini, Aleksandra Nadaj‐Pakleza, A. Nascimento Osorio, Jean‐Baptiste Noury, Acary Souza Bullé Oliveira, Yeşim Parman, Loren Peña, Gauthier Remiche, Monica Sciacco, Perry B. Shieh, Cheryl J. Smith, Thomas M. Stulnig, Frédéric Taithe, Céline Tard, Mark A. Tarnopolsky, Matthias Vorgerd, Chester B. Whitley, Peter Young, Jorge Alonso‐Pérez, Patricia Altemus, Anne-Catherine Aubé-Nathier, Jennifer Avelar, Carrie Bailey, Can Ebru Bekircan‐Kurt, Jenny Billy, Silvia Boschi, Kathryn E. Brown, Laura Carrera‐García, Lauren Chase, Hamilton Cirne, Loïc Danjoux, Jean‐Baptiste Davion, Stephanie DeArmey, E. Yu. Fedotova, Eve Gandolfo, Zoltán Grosz, Dewi Guellec, Anne-Katrin Guettsches, Michela Guglieri, Erin Hatcher, Sina Helms, Miriam Hufgard‐Leitner, S. A. Klyushnikov, Jacqui Langton, Lenka Linková, Nicolas Mavroudakis, Stella Mazurová

    Vydáno 2023
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