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Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.
Esapa CT, McIlhinney RAJ, Waite AJ, Benson MA, Mirzayan J, Piko H, Herczegfalvi Á, Horvath R, Karcagi V, Walter MC, Lochmüller H, Rizkallah PJ, Lu QL, Blake DJ. Esapa CT, et al. Among authors: herczegfalvi a. Front Mol Biosci. 2023 Dec 7;10:1279700. doi: 10.3389/fmolb.2023.1279700. eCollection 2023. Front Mol Biosci. 2023. PMID: 38161385 Free PMC article.
Muscular dystrophies: diagnostic approaches in Hungary.
Pikó H, Vancsó V, Nagy B, Balog J, Nagymihály M, Herczegfalvi A, Tímár L, Bán Z, Karcagi V. Pikó H, et al. Among authors: herczegfalvi a. Acta Physiol Hung. 2008 Dec;95(4):405-18. doi: 10.1556/APhysiol.95.2008.4.7. Acta Physiol Hung. 2008. PMID: 19009915 Clinical Trial.
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
Vogt G, El Choubassi N, Herczegfalvi Á, Kölbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, Hübner C, Mundlos S, Roos A, Lochmüller H, Karcagi V, Kornak U, Fischer-Zirnsak B. Vogt G, et al. Among authors: herczegfalvi a. J Inherit Metab Dis. 2021 Jul;44(4):972-986. doi: 10.1002/jimd.12341. Epub 2021 Feb 4. J Inherit Metab Dis. 2021. PMID: 33320377 Free PMC article.
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.
Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R. Pyle A, et al. Among authors: herczegfalvi a. J Neuromuscul Dis. 2014;1(1):55-63. doi: 10.3233/JND-140003. J Neuromuscul Dis. 2014. PMID: 26380172 Free PMC article.
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H. Müller JS, et al. Among authors: herczegfalvi a. Brain. 2007 Jun;130(Pt 6):1497-506. doi: 10.1093/brain/awm068. Epub 2007 Apr 17. Brain. 2007. PMID: 17439981
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.
Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H. Koeks Z, et al. Among authors: herczegfalvi a. J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280. J Neuromuscul Dis. 2017. PMID: 29125504 Free PMC article.
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barišić N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloğlu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Béroud C, Lochmüller H. Bladen CL, et al. Among authors: herczegfalvi a. Hum Mutat. 2013 Nov;34(11):1449-57. doi: 10.1002/humu.22390. Epub 2013 Aug 26. Hum Mutat. 2013. PMID: 23913485
33 results