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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
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.
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.
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.
Mutation history of the roma/gypsies.
Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmuller H, Tordai A, Kalmar L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Venkataraman V, Warwick Carter K, Reeve J, de Pablo R, Kucinskas V, Kalaydjieva L. Morar B, et al. Among authors: herczegfalvi a. Am J Hum Genet. 2004 Oct;75(4):596-609. doi: 10.1086/424759. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322984 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.
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.
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
28 results