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Personal data sheet |
Print preview VALIDITY EXPIRED personal data approved: 2011. IV. 14. Publications |
2007
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Juliane S. Müller, Agnes Herczegfalvi, Juan J. Vilchez, Jaume Colomer, Linda L.: Phenotypical spectrum of DOK7 mutations in congenital myasthenic, Brain, 130:1497-506, 2007 type of document: Journal paper impact factor: 8.200
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2006
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Juliane S Müller, Henriett Pikó, Benedikt GH Schoser, Beate Schlotter-Weigel, Peter Reilich, Stefanie Gürster, Christine Born, Veronika Karcagi, Dieter Pongratz, Hanns Lochmüller, Maggie C. Walter: Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy, Neuromuscular Disorders, 16:432-436, 2006 type of document: Journal paper impact factor: 3.040 number of independent citations: 1
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2005
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Gavin Hudson, Sharon Keers, Patrick Yu Wai Man, Philip Griffiths, Kirsi Huoponen, Marja-Liisa Savontaus, Eeva Nikoskelainen, Massimo Zeviani, Franco Carrara, Rita Horváth, Veronika Karcagi, Liesbeth S: Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder, Am. J. Hum. Genet. 77(6):1086-91. 2005 type of document: Journal paper impact factor: 12.340 number of independent citations: 13
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2005
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Luba Kalaydjieva, Hanns Lochmüller, Ivailo Tournev, Frank Baas, Judit Beres, Jaume Colomer, Velina Guergueltcheva Ralf Herrmann, Veronika Karcagi, Rosalind King, Toshiyuki Miyata, Andrea Müllner-Eiden: 125th ENMC International Workshop: Neuromuscular Disorders in the Roma (Gypsy) Population, 23-25 April 2004, Naarden, The Netherlands, Neuromuscular Disorders 15: 65-71, 2005 type of document: Journal paper impact factor: 3.040
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2004
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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, Venkatarama: Mutation History of the Roma/Gypsies, Am. J. Hum. Genet. 75(4):596-609, 2004 type of document: Journal paper impact factor: 10.540 number of independent citations: 11
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2002
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Jordanova, V. Karcagi, I. Kremensky, I. Litvinenko, M. Uzunova, I. Turnev, B. Ishpekova, A. Herczegfalvi, I. Simeonova and L. Kalaydjieva: Spinal Muscular Atrophy Among the Roma (Gypsies) in Bulgaria and Hungary, Neuromuscular Disorders, 12, 378-385, 2002 type of document: Journal paper impact factor: 2.590 number of independent citations: 1
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2002
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Barisic N, Schmidt C, Sidorova OP, Herczegfalvi A, Gekht BM, Song IH, Stucka: Congenital myasthenic syndrome (CMS) in three European kinships due to a novel, Neuropediatrics. 2002 Oct;33(5):249-54 type of document: Journal paper impact factor: 1.480 number of independent citations: 1
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2001
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M. Jaksch, R. Horvath, N. Horn, D. P. Auer, C. Macmillan, J. Peters, K-D. Gerbitz, I. Kraegeloh-Mann, A. Muntau, V. Karcagi, R. Kalmanchey, H. Lochmueller, E.A. Shoubridge, and P. Freisinger: Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy, Neurology, 57:1440-1446, 2001 type of document: Journal paper impact factor: 5.230 number of independent citations: 23
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1999
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A. Abicht, R. Stucka, V. Karcagi, A. Herczegfalvi, R. Horvath, W. Mortier et al.: A common mutation (1267delG) in congenital myasthenic patients of Gypsy ethnic origin, Neurology, 1999, 53:1564-1569 type of document: Journal paper impact factor: 5.230 number of independent citations: 34
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1992
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Venema, J., A. van Hoffe, Karcagi V., Natarajan A. T., van Zeeland A. A., Mullenders L. H. F.: Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from transcribed strand of active genes, Mol. Cell. Biol. 11:8, 4128-4134, 1992 type of document: Journal paper impact factor: 7.580 number of independent citations: 244
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| Number of independent citations to these publications: | 328 |
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