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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 2
2006 1
2007 2
2008 4
2009 3
2011 3
2013 3
2014 3
2016 2
2017 1
2018 1
2020 2
2021 3
2023 1
2024 0

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28 results

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Page 1
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.
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.
Selvatici R, Rossi R, Fortunato F, Trabanelli C, Sifi Y, Margutti A, Neri M, Gualandi F, Szabò L, Fekete B, Angelova L, Litvinenko I, Ivanov I, Vildan Y, Iuhas OA, Vintan M, Burloiu C, Lacramioara B, Visa G, Epure D, Rusu C, Vasile D, Sandu M, Vlodavets D, Mager M, Kyriakides T, Delin S, Lehman I, Fureš JS, Bojinova V, Militaru M, Guergueltcheva V, Burnyte B, Molnar MJ, Butoianu N, Bensemmane SD, Makri-Mokrane S, Herczegfalvi A, Panzaru M, Emandi AC, Lusakowska A, Potulska-Chromik A, Kostera-Pruszczyk A, Shatillo A, Khelladi DB, Dendane O, Fang M, Lu Z, Ferlini A. Selvatici R, et al. Among authors: herczegfalvi a. Neurol Genet. 2020 Dec 24;7(1):e536. doi: 10.1212/NXG.0000000000000536. eCollection 2021 Feb. Neurol Genet. 2020. PMID: 33376799 Free PMC article.
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.
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.
Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, Çetinçelik Ü, Rajaee A, Kariminejad A, Paprocka J, Yapici Z, Bošnjak VM, van der Knaap MS; MLC Research Group. Hamilton EMC, et al. Neurology. 2018 Apr 17;90(16):e1395-e1403. doi: 10.1212/WNL.0000000000005334. Epub 2018 Mar 21. Neurology. 2018. PMID: 29661901 Free PMC article.
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.
European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences.
Vry J, Gramsch K, Rodger S, Thompson R, Steffensen BF, Rahbek J, Doerken S, Tassoni A, Beytía ML, Guergueltcheva V, Chamova T, Tournev I, Kostera-Pruszczyk A, Kaminska A, Lusakowska A, Mrazova L, Pavlovska L, Strenkova J, Vondráček P, Garami M, Karcagi V, Herczegfalvi Á, Bushby K, Lochmüller H, Kirschner J. Vry J, et al. Among authors: herczegfalvi a. J Neuromuscul Dis. 2016 Nov 29;3(4):517-527. doi: 10.3233/JND-160185. J Neuromuscul Dis. 2016. PMID: 27911335 Free PMC article.
[DISEASE BURDEN OP DUCHENNE MUSCULAR DYSTROPHY PATIENTS AND THEIR CAREGIVERS].
Péntek M, Herczegfalvi Á, Molnár MJ, Szőnyi LP, Kosztolányi G, Pfliegler G, Melegh B, Boncz I, Brodszky V, Baji P, Szegedi M, Pogány G, Gulácsi L. Péntek M, et al. Among authors: herczegfalvi a. Ideggyogy Sz. 2016 Mar 30;69(5-6):183-93. doi: 10.18071/isz.69.0183. Ideggyogy Sz. 2016. PMID: 27468608 Free article. Hungarian.
28 results