Hakutulokset - Maria Judit Molnar

Case report: The spectrum of SMPD1 pathogenic variants in Hungary Tekijä Maria Judit Molnar, Maria Judit Molnar, Tamas Szlepak, Tamas Szlepak, Ildikó Csürke, Szendile Loth, Rita Káposzta, Melinda Erdős, Antal Dezsőfi

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Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications Tekijä Peter Balicza, Peter Balicza, Andras Gezsi, Mariann Fedor, Judit C. Sagi, Aniko Gal, Noemi Agnes Varga, Maria Judit Molnar, Maria Judit Molnar

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Answer to Gerber et al. “Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy” Tekijä Anikó Gál, Janine H Santos, Mária Judit Molnár, György Hajnóczky

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Editorial: Women with neuropsychiatric disorders: understanding & personalizing needs Tekijä Ágota Barabássy, Zsófia Borbála Dombi, Kristina Gemzell-Danielsson, Maria Judit Molnar

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

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The Role of the Rare Variants in the Genes Encoding the Alpha-Ketoglutarate Dehydrogenase in Alzheimer’s Disease Tekijä Dora Csaban, Klara Pentelenyi, Renata Toth-Bencsik, Anett Illes, Zoltan Grosz, Andras Gezsi, Maria Judit Molnar

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The improvement of motor symptoms in Huntington’s disease during cariprazine treatment Tekijä Reka Csehi, Viktor Molnar, Mariann Fedor, Vivien Zsumbera, Agnes Palasti, Karoly Acsai, Zoltan Grosz, Gyorgy Nemeth, Maria Judit Molnar

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Insights into eye genetics and recent advances in ocular gene therapy Tekijä Viktória Szabó, Balázs Varsányi, Mirella Barboni, Ágnes Takács, Krisztina Knézy, Mária Judit Molnár, Zoltán Zsolt Nagy, Bence György, Carlo Rivolta

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Mitochondrial DNA Deletions and Plasma GDF-15 Protein Levels Are Linked to Hormonal Dysregulation and Multi-Organ Involvement in Female Reproductive Endocrine Disorders Tekijä Vera Varhegyi, Barnabas Banfi, Domonkos Trager, Dora Gerszi, Eszter Maria Horvath, Miklos Sipos, Nandor Acs, Maria Judit Molnar, Szabolcs Varbiro, Aniko Gal

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Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi met... Tekijä Maria Judit Molnar, Léna Szabó, Oana Aurelia Vladacenco, Ana Maria Cobzaru, Talya Dor, Amir Dori, Georgios Papadimas, Lenka Juříková, Ivan Litvinenko, Ivailo Tournev, Craig Dixon

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Genetic epidemiology of C9orf72 repeat expansion associated amyotrophic lateral sclerosis in Hungary Tekijä Zsófia Flóra Nagy, Adrienn Géresi, Zoltán Grosz, Barbara Trombitás, Margit Pál, Dominika Nagy, András Salamon, Péter Balicza, Lívia Dézsi, Péter Klivényi, Márta Széll, Mária Judit Molnár

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Erratum To: MSTO1 is a cytoplasmic pro‐mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans Tekijä Aniko Gal, Peter Balicza, David Weaver, Shamim Naghdi, Suresh K Joseph, Péter Várnai, Tibor Gyuris, Attila Horváth, Laszlo Nagy, Erin L Seifert, Maria Judit Molnar, György Hajnóczky

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The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian Population Tekijä Sándor Márki, Anikó Göblös, Eszter Szlávicz, Nóra Török, Péter Balicza, Benjamin Bereznai, Annamária Takáts, József Engelhardt, Péter Klivényi, László Vécsei, Mária Judit Molnár, Nikoletta Nagy, Márta Széll

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MSTO1 is a cytoplasmic pro‐mitochondrial fusion protein Tekijä Aniko Gal, Peter Balicza, David Weaver, Shamim Naghdi, Suresh K Joseph, Péter Várnai, Tibor Gyuris, Attila Horváth, Laszlo Nagy, Erin L Seifert, Maria Judit Molnar, György Hajnóczky

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Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy Tekijä Krisztina Hegedűs, István Lénárt, Andrea Xue, Péter Béla Monostori, Ákos Baráth, Borbála Mikos, Szabolcs Udvari, Adrienn Géresi, Attila József Szabó, Csaba Bereczki, Mária Judit Molnár, Ildikó Szatmári

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Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease Tekijä Aniko Gal, Zoltán Grosz, Beata Borsos, Ildikó Szatmari, Agnes Sebők, Laszló Jávor, Veronika Harmath, Katalin Szakszon, Livia Dezsi, Eniko Balku, Zita Jobbagy, Agnes Herczegfalvi, Zsuzsanna Almássy, Levente Kerényi, Maria Judit Molnar

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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial Tekijä Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce Cohen, Gregory M. Ennes, Marni J. Falk, Amy Goldstein, Gráinne Gorman, Richard Haas, Michio Hirano, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Costanza Lamperti, Anna Lehman, Nicola Longo, Maria Judit Molnar, Sumit Parikh, Han Phan, Robert D. S. Pitceathly, Russekk Saneto, Fernando Scaglia, Serenella Servidei, Mark Tarnopolsky, Antonio Toscano, Johan L. K. Van Hove, John Vissing, Jerry Vockley, Jeffrey S. Finman, Anthony Abbruscato, David A. Brown, Alana Sullivan, James A. Shiffer, Michelango Mancuso, on behalf of the MMPOWER-3 Trial Investigators

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Impact of Proteinuria on Renal Outcomes in the BALANCE Trial Tekijä Eric L. Wallace, Christoph Wanner, Giovanni Piotti, David Lee, Irene Koulinska, Raul Chertkoff, David G. Warnock, Eric L. Wallace, Ozlem Goker-Alpan, William R. Wilcox, Myrl Holida, John Bernat, Nicola Longo, Aleš Linhart, Derralynn A. Hughes, Robert J. Hopkin, Camilla Tøndel, Mirjam Langeveld, Pilar Giraldo, Antonio Pisani, Dominique Paul Germain, Ankit Mehta, Patrick B. Deegan, Maria Judit Molnar, Damara Ortiz, Ana Jovanovic, Michael Muriello, Bruce A. Barshop, Virginia Kimonis, Bojan Vujkovac, Albina Nowak, Tarekegn Geberhiwot, Ilkka Kantola, Jasmine Knoll, Stephen Waldek, Khan Nedd, Amel Karaa, David G. Warnock

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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 Tekijä Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Hanns Lochmüller, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump

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