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Veronika Karcagi

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Hungary

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Publications

TOP 3
Henriett Pikó; Agnes Herczegfalvi; Péter Mayer; Mária Judit Molnár; Veronika Karcagi
[Role of associated alleles and hypomethylation status in the clinical expression of facioscapulohumeral muscular dystrophy].
Mariann Nagymihály; Agnes Herczegfalvi; László Tímár; Veronika Karcagi
[Quantitative analysis of the genes determining spinal muscular atrophy].
Nóra Hosszúfalusi; Veronika Karcagi; Rita Horváth; Éva Palik; Judit Várkonyi; Katalin Rajczy; Zoltan Prohaszka ; Csaba Szentirmai; István Karádi; László Romics; Pál Pánczél
A detailed investigation of maternally inherited diabetes and deafness (MIDD) including clinical characteristics, C-peptide secretion, HLA-DR and -DQ status and autoantibody pattern.

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All Publications

2011: Henriett Pikó; Agnes Herczegfalvi; Péter Mayer; Mária Judit Molnár; Veronika Karcagi
[Role of associated alleles and hypomethylation status in the clinical expression of facioscapulohumeral muscular dystrophy].
Orvosi hetilap 2011;152(39):1576-85.
2009: Mariann Nagymihály; Agnes Herczegfalvi; László Tímár; Veronika Karcagi
[Quantitative analysis of the genes determining spinal muscular atrophy].
Ideggyógyászati szemle 2009;62(11-12):390-7.
2009: Nóra Hosszúfalusi; Veronika Karcagi; Rita Horváth; Éva Palik; Judit Várkonyi; Katalin Rajczy; Zoltan Prohaszka ; Csaba Szentirmai; István Karádi; László Romics; Pál Pánczél
A detailed investigation of maternally inherited diabetes and deafness (MIDD) including clinical characteristics, C-peptide secretion, HLA-DR and -DQ status and autoantibody pattern.
Diabetes/metabolism research and reviews 2009;25(2):127-35.
2009: Henriett Pikó; Viktor Vancsó; Balint Nagy; Zoltán Bán; Agnes Herczegfalvi; Veronika Karcagi
Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives.
Neuromuscular disorders : NMD 2009;19(2):108-12.
2007: Henriett Pikó; Balint Nagy; Judit Balog; Zoltán Bán; Agnes Herczegfalvi; Veronika Karcagi
[Carrier detection in families affected by Duchenne/Becker muscular dystrophy].
Orvosi hetilap 2007;148(51):2403-9.
2007: Juliane S Müller; Agnes Herczegfalvi; Juan J Vilchez; Jaume Colomer; Linda L Bachinski; Violeta Mihaylova; Manuela Santos; Ulrike Schara; Marcus Deschauer; Michael Shevell; Chantal Poulin; Ana Dias; Ana Soudo; Marja Hietala; Tuula Aärimaa; Ralf Krahe; Veronika Karcagi; Angela Huebner; David Beeson; Angela Abicht; Hanns Lochmüller
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Brain : a journal of neurology 2007;130(Pt 6):1497-506.
2006: Juliane S Müller; Henriett Piko; Benedikt 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 : NMD 2006;16(7):432-6.
2005: Gavin Hudson; Sharon M Keers; Patrick Yu Wai Man; Philip Griffiths; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Massimo Zeviani; Franco Carrara; Rita Horvath; Veronika Karcagi; Liesbeth Spruijt; I F M de Coo; H J M Smeets; Patrick F Chinnery
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.
American journal of human genetics 2005;77(6):1086-91.
2005: Rita Horváth; Maggie C Walter; Hanns Lochmüller; Angela Hübner; Veronika Karcagi; Henriett Pikó; László Timár; Sámuel Komoly
[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family].
Ideggyógyászati szemle 2005;58(1-2):52-8.
2005: Luba Kalaydjieva; Hanns Lochmüller; Ivailo Tournev; Frank Baas; Judit Beres; Jaume Colomer; Velina Guergueltcheva; Ralf Herrmann; Veronika Karcagi; Rosalind King; Toshiyuki Miyata; Andrea Müllner-Eidenböck; Tomohiko Okuda; Vedrana Milic-Rasic; Manuela Santos; Beril Talim; Juan Vilchez; Maggie Walter; Andoni Urtizberea; Luciano Merlini
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2005;15(1):65-71.
2004: Bharti Morar; David Gresham; Dora Angelicheva; Ivailo Tournev; Rebecca Gooding; Velina Guergueltcheva; Carolin Schmidt; Angela Abicht; Hanns Lochmuller; Attila Tordai; Lajos Kalmár; Melinda Nagy; Veronika Karcagi; Marc Jeanpierre; Agnes Herczegfalvi; David Beeson; Viswanathan Venkataraman; Kim Warwick Carter; Jeff Reeve; Rosario de Pablo; Vaidutis Kucinskas; Luba Kalaydjieva
Mutation history of the roma/gypsies.
American journal of human genetics 2004;75(4):596-609.
2002: Nina Barisic; Carolin Schmidt; OP Sidorova; Agnes Herczegfalvi; BM Gekht; In-Ho Song; Rolf Stucka; Veronika Karcagi; Angela Abicht; Hanns Lochmüller
Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene.
Neuropediatrics 2002;33(5):249-54.
2002: J Horvath; Rita Horvath; Veronika Karcagi; Sámuel Komoly; D R Johns
Sequence analysis of Hungarian LHON patients not carrying the common primary mutations.
Journal of inherited metabolic disease 2002;25(4):323-4.
2001: Michaela Jaksch; Rita Horvath; N Horn; D P Auer; Carol Macmillan; J Peters; Klaus-Dieter Gerbitz; I Kraegeloh-Mann; Ania C Muntau; Veronika Karcagi; R Kálmánchey; Hanns Lochmuller; Eric A Shoubridge; Peter Freisinger
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.
Neurology 2001;57(8):1440-6.
2000: Päivi Lahermo; V Laitinen; Pertti Sistonen; J Béres; Veronika Karcagi; Marja-Liisa Savontaus
MtDNA polymorphism in the Hungarians: comparison to three other Finno-Ugric-speaking populations.
Hereditas 2000;132(1):35-42.
2000: Rita Horváth; Angela Abicht; Eric A Shoubridge; Veronika Karcagi; Csilla Rózsa; Sámuel Komoly; Hanns Lochmüller
Leber's hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS.
Journal of neurology 2000;247(1):65-7.
1999: Angela Abicht; Rolf Stucka; Veronika Karcagi; Agnes Herczegfalvi; Rita Horváth; Wilhelm Mortier; Ulrike Schara; V Ramaekers; W Jost; J Brunner; G Janssen; U Seidel; Beate Schlotter; Wolfgang Müller-Felber; Dieter Pongratz; Reinhardt Rüdel; Hanns Lochmüller
A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.
Neurology 1999;53(7):1564-9.