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Items: 46

1.

Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations.

Beke A, Piko H, Haltrich I, Karcagi V, Rigo J Jr, Molnar MJ, Fekete G.

BMC Med Genet. 2018 Jul 9;19(1):113. doi: 10.1186/s12881-018-0634-5.

2.

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.

J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280.

3.

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions.

Jávorszky E, Morinière V, Kerti A, Balogh E, Pikó H, Saunier S, Karcagi V, Antignac C, Tory K.

Clin Chem Lab Med. 2017 May 1;55(6):809-816. doi: 10.1515/cclm-2016-0819.

PMID:
28002029
4.

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.

J Neuromuscul Dis. 2016 Nov 29;3(4):517-527.

5.

Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases.

Lovadi E, Csereklyei M, Merkli H, FüLöp K, Sebők Á, Karcagi V, Komoly S, Pál E.

Muscle Nerve. 2017 Apr;55(4):564-569. doi: 10.1002/mus.25364. Epub 2016 Dec 26.

PMID:
27489983
6.

Respiratory chain deficiency in nonmitochondrial disease.

Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R.

Neurol Genet. 2015 Apr 27;1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun.

7.

Complex X chromosome rearrangement associated with multiorgan autoimmunity.

Haltrich I, Pikó H, Pamjav H, Somogyi A, Völgyi A, David D, Beke A, Garamvölgyi Z, Kiss E, Karcagi V, Fekete G.

Mol Cytogenet. 2015 Jul 19;8:51. doi: 10.1186/s13039-015-0152-5. eCollection 2015.

8.

The modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation.

Reményi V, Inczédy-Farkas G, Gál A, Bereznai B, Pál Z, Karcagi V, Mechler F, Molnár MJ.

Ideggyogy Sz. 2014 Nov 30;67(11-12):420-5.

PMID:
25720245
9.

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H.

Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17.

10.

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.

Mora M, Angelini C, Bignami F, Bodin AM, Crimi M, Di Donato JH, Felice A, Jaeger C, Karcagi V, LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, de la Paz MP, Saker S, Schneiderat P, Ensini M, Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puymirat J, Reza M, Voit T, Baldo C, Bricarelli FD, Goldwurm S, Merla G, Pegoraro E, Renieri A, Zatloukal K, Filocamo M, Lochmüller H.

Eur J Hum Genet. 2015 Sep;23(9):1116-23. doi: 10.1038/ejhg.2014.272. Epub 2014 Dec 24.

11.

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

Ivanov IS, Azmanov DN, Ivanova MB, Chamova T, Pacheva IH, Panova MV, Song S, Morar B, Yordanova RV, Galabova FK, Sotkova IG, Linev AJ, Bitchev S, Shearwood AM, Kancheva D, Gabrikova D, Karcagi V, Guergueltcheva V, Geneva IE, Bozhinova V, Stoyanova VK, Kremensky I, Jordanova A, Savov A, Horvath R, Brown MA, Tournev I, Filipovska A, Kalaydjieva L.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):76-83. doi: 10.1016/j.ymgme.2014.07.017. Epub 2014 Jul 21.

12.

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R.

Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287.

13.

A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome.

Haltrich I, Pikó H, Kiss E, Tóth Z, Karcagi V, Fekete G.

Mol Cytogenet. 2014 Jun 5;7:37. doi: 10.1186/1755-8166-7-37. eCollection 2014.

14.

Retrospective assessment of the most common mitochondrial DNA mutations in a large Hungarian cohort of suspect mitochondrial cases.

Remenyi V, Inczedy-Farkas G, Komlosi K, Horvath R, Maasz A, Janicsek I, Pentelenyi K, Gal A, Karcagi V, Melegh B, Molnar MJ.

Mitochondrial DNA. 2015 Aug;26(4):572-8. doi: 10.3109/19401736.2013.878901. Epub 2014 Jan 17.

PMID:
24438288
15.

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.

J Neuromuscul Dis. 2014;1(1):55-63. doi: 10.3233/JND-140003.

16.

Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure.

Beke A, Piko H, Haltrich I, Csomor J, Matolcsy A, Fekete G, Rigo J, Karcagi V.

Mol Cytogenet. 2013 Dec 20;6(1):62. doi: 10.1186/1755-8166-6-62.

17.

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmüller H.

J Neurol. 2014 Jan;261(1):152-63. doi: 10.1007/s00415-013-7154-1. Epub 2013 Oct 27.

PMID:
24162038
18.

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.

Hum Mutat. 2013 Nov;34(11):1449-57. doi: 10.1002/humu.22390. Epub 2013 Aug 26.

PMID:
23913485
19.

Congenital myasthenic syndromes and transient myasthenia gravis.

Gajda A, Szabó H, Gergev G, Karcagi V, Szabó N, Endreffy E, Túri S, Sztriha L.

Ideggyogy Sz. 2013 May 30;66(5-6):200-3.

PMID:
23909021
20.

[Role of associated alleles and hypomethylation status in the clinical expression of facioscapulohumeral muscular dystrophy].

Pikó H, Molnár MJ, Herczegfalvi A, Mayer P, Karcagi V.

Orv Hetil. 2011 Sep 25;152(39):1576-85. doi: 10.1556/OH.2011.29179. Hungarian.

PMID:
21920844
21.

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, Wallgren-Pettersson C.

Neuromuscul Disord. 2011 Aug;21(8):556-62. doi: 10.1016/j.nmd.2011.05.012. Epub 2011 Jul 2.

PMID:
21724397
22.

Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.

Durmus H, Laval SH, Deymeer F, Parman Y, Kiyan E, Gokyigiti M, Ertekin C, Ercan I, Solakoglu S, Karcagi V, Straub V, Bushby K, Lochmüller H, Serdaroglu-Oflazer P.

Neurology. 2011 Jan 18;76(3):227-35. doi: 10.1212/WNL.0b013e318207b043.

PMID:
21242490
23.

[Quantitative analysis of the genes determining spinal muscular atrophy].

Nagymihály M, Herczegfalvi A, Tímár L, Karcagi V.

Ideggyogy Sz. 2009 Nov 30;62(11-12):390-7. Hungarian.

PMID:
20025129
24.

A detailed investigation of maternally inherited diabetes and deafness (MIDD) including clinical characteristics, C-peptide secretion, HLA-DR and -DQ status and autoantibody pattern.

Hosszúfalusi N, Karcagi V, Horváth R, Palik E, Várkonyi J, Rajczy K, Prohászka Z, Szentirmai C, Karádi I, Romics L, Pánczél P.

Diabetes Metab Res Rev. 2009 Feb;25(2):127-35. doi: 10.1002/dmrr.841.

PMID:
19116951
25.

Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives.

Pikó H, Vancsó V, Nagy B, Bán Z, Herczegfalvi A, Karcagi V.

Neuromuscul Disord. 2009 Feb;19(2):108-12. doi: 10.1016/j.nmd.2008.10.011. Epub 2008 Dec 11.

PMID:
19084397
26.

[Screening for hereditary neuromuscular disorders with molecular genetic methods in the Roma population of Hungary].

Herczegfalvi A, Pikó H, Karcagi V.

Ideggyogy Sz. 2008 Nov 30;61(11-12):426-30. Hungarian.

PMID:
19070320
27.

[Convulsions in neonatal period and infancy with rare etiology (neurogenetic disease)].

Nagy A, Szever Z, Kormos Z, Székely E, Tóth E, Smidéliusz L, Horváth R, Karcagi V, Schuler A, Jávorszky E.

Ideggyogy Sz. 2008 Nov 30;61(11-12):417-22. Hungarian.

PMID:
19070318
28.

[Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases].

Siegler Z, Neuwirth M, Hegyi M, Paraicz E, Pálmafy B, Tegzes A, Barsi P, Karcagi V, Claes L, De Jonghe P, Herczegfalvi A, Fogarasi A.

Ideggyogy Sz. 2008 Nov 30;61(11-12):402-8. Hungarian.

PMID:
19070316
29.

Muscular dystrophies: diagnostic approaches in Hungary.

Pikó H, Vancsó V, Nagy B, Balog J, Nagymihály M, Herczegfalvi A, Tímár L, Bán Z, Karcagi V.

Acta Physiol Hung. 2008 Dec;95(4):405-18. doi: 10.1556/APhysiol.95.2008.4.7.

PMID:
19009915
30.

[Carrier detection in families affected by Duchenne/Becker muscular dystrophy].

Pikó H, Nagy B, Balog J, Bán Z, Herczegfalvi A, Karcagi V.

Orv Hetil. 2007 Dec 23;148(51):2403-9. Hungarian.

PMID:
18055393
31.

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.

Brain. 2007 Jun;130(Pt 6):1497-506. Epub 2007 Apr 17.

PMID:
17439981
32.

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.

Müller JS, Piko H, Schoser BG, Schlotter-Weigel B, Reilich P, Gürster S, Born C, Karcagi V, Pongratz D, Lochmüller H, Walter MC.

Neuromuscul Disord. 2006 Jul;16(7):432-6. Epub 2006 May 26.

PMID:
16730439
33.

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

Hudson G, Keers S, Yu-Wai-Man P, Griffiths P, Huoponen K, Savontaus ML, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IF, Smeets HJ, Chinnery PF.

Am J Hum Genet. 2005 Dec;77(6):1086-91. Epub 2005 Oct 11.

34.

[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family].

Horváth R, Walter MC, Lochmüller H, Hübner A, Karcagi V, Pikó H, Timár L, Komoly S.

Ideggyogy Sz. 2005 Jan 20;58(1-2):52-8. Hungarian.

PMID:
15884399
35.

125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands.

Kalaydjieva L, Lochmüller H, Tournev I, Baas F, Beres J, Colomer J, Guergueltcheva V, Herrmann R, Karcagi V, King R, Miyata T, Müllner-Eidenböck A, Okuda T, Milic Rasic V, Santos M, Talim B, Vilchez J, Walter M, Urtizberea A, Merlini L.

Neuromuscul Disord. 2005 Jan;15(1):65-71. Epub 2004 Nov 26. No abstract available.

PMID:
15639123
36.

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.

Am J Hum Genet. 2004 Oct;75(4):596-609. Epub 2004 Aug 20.

37.

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.

Barisic N, Schmidt C, Sidorova OP, Herczegfalvi A, Gekht BM, Song IH, Stucka R, Karcagi V, Abicht A, Lochmüller H.

Neuropediatrics. 2002 Oct;33(5):249-54.

PMID:
12536367
38.

Sequence analysis of Hungarian LHON patients not carrying the common primary mutations.

Horvath J, Horvath R, Karcagi V, Komoly S, Johns DR.

J Inherit Metab Dis. 2002 Aug;25(4):323-4.

PMID:
12227465
39.

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P.

Neurology. 2001 Oct 23;57(8):1440-6.

PMID:
11673586
40.

MtDNA polymorphism in the Hungarians: comparison to three other Finno-Ugric-speaking populations.

Lahermo P, Laitinen V, Sistonen P, Béres J, Karcagi V, Savontaus ML.

Hereditas. 2000;132(1):35-42.

41.

Leber's hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS.

Horváth R, Abicht A, Shoubridge EA, Karcagi V, Rózsa C, Komoly S, Lochmüller H.

J Neurol. 2000 Jan;247(1):65-7. Review. No abstract available.

PMID:
10701903
42.

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.

Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W, Schara U, Ramaekers V, Jost W, Brunner J, Janssen G, Seidel U, Schlotter B, Müller-Felber W, Pongratz D, Rüdel R, Lochmüller H.

Neurology. 1999 Oct 22;53(7):1564-9.

PMID:
10534268
43.

[The importance of molecular genetic diagnosis of Martin-Bell disease in genetic counseling].

Horváth M, Tímár L, Karcagi V, Czeizel E.

Orv Hetil. 1997 Mar 2;138(9):541-5. Hungarian.

PMID:
9102630
44.

Examination of verocytotoxin producing capacity and determination of the presence of Shiga-like toxin genes in human Escherichia coli isolates.

Tóth I, Karcagi V, Nagy B, Gadó I, Milch H.

Acta Microbiol Immunol Hung. 1994;41(3):259-64. Erratum in: Acta Microbiol Immunol Hung 1995;42(1):140.

PMID:
7697321
45.

Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes.

Venema J, van Hoffen A, Karcagi V, Natarajan AT, van Zeeland AA, Mullenders LH.

Mol Cell Biol. 1991 Aug;11(8):4128-34.

46.

Sexual behaviour of male rats thyroidectomized prior to puberty and during adulthood.

Karcagi V, Kurcz M, Nagy I, Anda E.

Psychoneuroendocrinology. 1977;2(3):275-86. No abstract available.

PMID:
905477

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