Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes
Mihaylova, Violeta, Müller, Juliane S., Vilchez, Juan J., Salih, Mustafa A., Kabiraj, Mohammad M., D’Amico, Adele, Bertini, Enrico, Wölfle, Joachim, Schreiner, Felix, Kurlemann, Gerhard, Rasic, Vedrana Milic, Siskova, Dana, Colomer, Jaume, Herczegfalvi, Agnes, Fabriciova, Katarina, Weschke, Bernhard, Scola, Rosana, Hoellen, Friederike, Schara, Ulrike, Abicht, Angela, Lochmüller, Hanns
Published in Brain (London, England : 1878) (01.03.2008)
Published in Brain (London, England : 1878) (01.03.2008)
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Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease
Gal, Aniko, Grosz, Zoltán, Borsos, Beata, Szatmari, Ildikó, Sebők, Agnes, Jávor, Laszló, Harmath, Veronika, Szakszon, Katalin, Dezsi, Livia, Balku, Eniko, Jobbagy, Zita, Herczegfalvi, Agnes, Almássy, Zsuzsanna, Kerényi, Levente, Molnar, Maria Judit
Published in Life (Basel, Switzerland) (31.05.2021)
Published in Life (Basel, Switzerland) (31.05.2021)
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Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy
Lehtokari, Vilma-Lotta, Pelin, Katarina, Herczegfalvi, Agnes, Karcagi, Veronika, Pouget, Jean, Franques, Jerôme, Pellissier, Jean François, Figarella-Branger, Dominique, von der Hagen, Maja, Huebner, Angela, Schoser, Benedikt, Lochmüller, Hanns, Wallgren-Pettersson, Carina
Published in Neuromuscular disorders : NMD (01.08.2011)
Published in Neuromuscular disorders : NMD (01.08.2011)
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DISEASE BURDEN OF DUCHENNE MUSCULAR DYSTROPHY PATIENTS AND THEIR CAREGIVERS
Péntek, Márta, Herczegfalvi, Ágnes, Molnár, Mária Judit, Szőnyi, László Pál, Kosztolányi, György, Pfliegler, György, Melegh, Béla, Boncz, Imre, Brodszky, Valentin, Baji, Petra, Szegedi, Márta, Pogány, Gábor, Gulácsi, László
Published in Ideggyógyászati szemle (30.05.2016)
Published in Ideggyógyászati szemle (30.05.2016)
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Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa
Vogt, Guido, El Choubassi, Naji, Herczegfalvi, Ágnes, Kölbel, Heike, Lekaj, Anja, Schara, Ulrike, Holtgrewe, Manuel, Krause, Sabine, Horvath, Rita, Schuelke, Markus, Hübner, Christoph, Mundlos, Stefan, Roos, Andreas, Lochmüller, Hanns, Karcagi, Veronika, Kornak, Uwe, Fischer‐Zirnsak, Björn
Published in Journal of inherited metabolic disease (01.07.2021)
Published in Journal of inherited metabolic disease (01.07.2021)
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Efficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophy: Real world data from Hungarian patients
Szabó, Léna, Gergely, Anita, Jakus, Rita, Fogarasi, András, Grosz, Zoltán, Molnár, Mária Judit, Andor, Ildikó, Schulcz, Orsolya, Goschler, Ádám, Medveczky, Erika, Czövek, Dorottya, Herczegfalvi, Ágnes
Published in European journal of paediatric neurology (01.07.2020)
Published in European journal of paediatric neurology (01.07.2020)
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Quantitative analysis of the genes determining spinal muscular atrophy
Nagymihály, Mariann, Herczegfalvi, Agnes, Tímár, László, Karcagi, Veronika
Published in Ideggyógyászati szemle (30.11.2009)
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Published in Ideggyógyászati szemle (30.11.2009)
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Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies
Esapa, Christopher T, McIlhinney, R A Jeffrey, Waite, Adrian J, Benson, Matthew A, Mirzayan, Jasmin, Piko, Henriett, Herczegfalvi, Ágnes, Horvath, Rita, Karcagi, Veronika, Walter, Maggie C, Lochmüller, Hanns, Rizkallah, Pierre J, Lu, Qi L, Blake, Derek J
Published in Frontiers in molecular biosciences (2023)
Published in Frontiers in molecular biosciences (2023)
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Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report
Horváth, Emese, Farkas, Katalin, Herczegfalvi, Agnes, Nagy, Nikoletta, Széll, Márta
Published in Journal of medical case reports (26.06.2014)
Published in Journal of medical case reports (26.06.2014)
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Genetically determined neuromuscular disorders of some Roma families living in Hungary
Aranka, Laszlo, Peter, Mayer, Jeno, Kobor, Katalin, Racz, Gyula, Talosi, Emoke, Endreffy, Agnes, Herczegfalvi, Tibor, Hortobagyi, Laszlo, Tiszlavicz, Edit, Bereg, Marta, Katona, Janos, Szabo, Veronika, Karcagi
Published in Ideggyógyászati szemle (30.01.2009)
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Published in Ideggyógyászati szemle (30.01.2009)
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Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases
Siegler, Zsuzsa, Neuwirth, Magdolna, Hegyi, Márta, Paraicz, Eva, Pálmafy, Beatrix, Tegzes, Andrea, Barsi, Péter, Karcagi, Veronika, Claes, Lieve, De Jonghe, Peter, Herczegfalvi, Agnes, Fogarasi, András
Published in Ideggyógyászati szemle (30.11.2008)
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Published in Ideggyógyászati szemle (30.11.2008)
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Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families – Detection of carrier status in symptomatic and asymptomatic female relatives
Pikó, Henriett, Vancsó, Viktor, Nagy, Bálint, Bán, Zoltán, Herczegfalvi, Ágnes, Karcagi, Veronika
Published in Neuromuscular disorders : NMD (01.02.2009)
Published in Neuromuscular disorders : NMD (01.02.2009)
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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
Müller, Juliane S., Herczegfalvi, Agnes, Vilchez, Juan J., Colomer, Jaume, Bachinski, Linda L., Mihaylova, Violeta, Santos, Manuela, Schara, Ulrike, Deschauer, Marcus, Shevell, Michael, Poulin, Chantal, Dias, Ana, Soudo, Ana, Hietala, Marja, Äärimaa, Tuula, Krahe, Ralf, Karcagi, Veronika, Huebner, Angela, Beeson, David, Abicht, Angela, Lochmüller, Hanns
Published in Brain (London, England : 1878) (01.06.2007)
Published in Brain (London, England : 1878) (01.06.2007)
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Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
Selvatici, Rita, Rossi, Rachele, Fortunato, Fernanda, Trabanelli, Cecilia, Sifi, Yamina, Margutti, Alice, Neri, Marcella, Gualandi, Francesca, Szabò, Lena, Fekete, Balint, Angelova, Lyudmilla, Litvinenko, Ivan, Ivanov, Ivan, Vildan, Yurtsever, Iuhas, Oana Alexandra, Vintan, Mihaela, Burloiu, Carmen, Lacramioara, Butnariu, Visa, Gabriela, Epure, Diana, Rusu, Cristina, Vasile, Daniela, Sandu, Magdalena, Vlodavets, Dmitry, Mager, Monica, Kyriakides, Theodore, Delin, Sanja, Lehman, Ivan, Fureš, Jadranka Sekelj, Bojinova, Veneta, Militaru, Mariela, Guergueltcheva, Velina, Burnyte, Birute, Molnar, Maria Judith, Butoianu, Niculina, Bensemmane, Selma Dounia, Makri-Mokrane, Samira, Herczegfalvi, Agnes, Panzaru, Monica, Emandi, Adela Chirita, Lusakowska, Anna, Potulska-Chromik, Anna, Kostera-Pruszczyk, Anna, Shatillo, Andriy, Khelladi, Djawed Bouchenak, Dendane, Oussama, Fang, Mingyan, Lu, Zhiyuan, Ferlini, Alessandra
Published in Neurology. Genetics (01.02.2021)
Published in Neurology. Genetics (01.02.2021)
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Mutation History of the Roma/Gypsies
Morar, Bharti, Gresham, David, Angelicheva, Dora, Tournev, Ivailo, Gooding, Rebecca, Guergueltcheva, Velina, Schmidt, Carolin, Abicht, Angela, Lochmüller, Hanns, Tordai, Attila, Kalmár, Lajos, Nagy, Melinda, Karcagi, Veronika, Jeanpierre, Marc, Herczegfalvi, Agnes, Beeson, David, Venkataraman, Viswanathan, Warwick Carter, Kim, Reeve, Jeff, de Pablo, Rosario, Kučinskas, Vaidutis, Kalaydjieva, Luba
Published in American journal of human genetics (01.10.2004)
Published in American journal of human genetics (01.10.2004)
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Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene
Pyle, Angela, Ramesh, Venkateswaran, Bartsakoulia, Marina, Boczonadi, Veronika, Gomez-Duran, Aurora, Herczegfalvi, Agnes, Blakely, Emma L., Smertenko, Tania, Duff, Jennifer, Eglon, Gail, Moore, David, Yu Wai Man, Patrick, Douroudis, Konstantinos, Santibanez-Koref, Mauro, Griffin, Helen, Lochmüller, Hanns, Karcagi, Veronika, Taylor, Robert W., Chinnery, Patrick F., Horvath, Rita
Published in Journal of neuromuscular diseases (2014)
Published in Journal of neuromuscular diseases (2014)
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Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational
McCormack, Pauline, Woods, Simon, Aartsma-Rus, Annemieke, Hagger, Lynn, Herczegfalvi, Agnes, Heslop, Emma, Irwin, Joseph, Kirschner, Janbernd, Moeschen, Patrick, Muntoni, Francesco, Ouillade, Marie-Christine, Rahbek, Jes, Rehmann-Sutter, Christoph, Rouault, Francoise, Sejersen, Thomas, Vroom, Elizabeth, Straub, Volker, Bushby, Kate, Ferlini, Alessandra
Published in PLoS currents (2013)
Published in PLoS currents (2013)
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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Koeks, Zaïda, Bladen, Catherine, Salgado, En, van Zwet, Erik, Pogoryelova, Oksana, Mcmacken, Grace, Monges, Soledad, Foncuberta, Maria, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Bellgard, Matthew M., Roy, Ann, Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lähdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Ferlini, Alessandra, Kimura, En, van den Bergen, Jan, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Ann, Kostera-Pruszczyk, Ann, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Klein, Andrea, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A. Ayşe, Oznur, Tunca, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy, Martin, Ann, Peay, Holly, Kirschner, Jan, Flanigan, Kevin, Straub, Volker, Bushby, Kate, Béroud, Christophe, Verschuuren, Jan, Lochmuller, Hanns
Published in Journal of neuromuscular diseases (21.11.2017)
Published in Journal of neuromuscular diseases (21.11.2017)
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