Piko H - Search Results

1

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. Müller JS, et al. Among authors: piko h. Neuromuscul Disord. 2006 Jul;16(7):432-6. doi: 10.1016/j.nmd.2006.04.006. Epub 2006 May 26. Neuromuscul Disord. 2006. PMID: 16730439

2

[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. Horváth R, et al. Among authors: piko h. Ideggyogy Sz. 2005 Jan 20;58(1-2):52-8. Ideggyogy Sz. 2005. PMID: 15884399 Hungarian.

3

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

Pikó H, Nagy B, Balog J, Bán Z, Herczegfalvi A, Karcagi V. Pikó H, et al. Orv Hetil. 2007 Dec 23;148(51):2403-9. doi: 10.1556/OH.2007.28190. Orv Hetil. 2007. PMID: 18055393 Hungarian.

4

Muscular dystrophies: diagnostic approaches in Hungary.

Pikó H, Vancsó V, Nagy B, Balog J, Nagymihály M, Herczegfalvi A, Tímár L, Bán Z, Karcagi V. Pikó H, et al. Acta Physiol Hung. 2008 Dec;95(4):405-18. doi: 10.1556/APhysiol.95.2008.4.7. Acta Physiol Hung. 2008. PMID: 19009915 Clinical Trial.

5

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

Herczegfalvi A, Pikó H, Karcagi V. Herczegfalvi A, et al. Among authors: piko h. Ideggyogy Sz. 2008 Nov 30;61(11-12):426-30. Ideggyogy Sz. 2008. PMID: 19070320 Hungarian.

6

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. Pikó H, et al. Neuromuscul Disord. 2009 Feb;19(2):108-12. doi: 10.1016/j.nmd.2008.10.011. Epub 2008 Dec 11. Neuromuscul Disord. 2009. PMID: 19084397

7

[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. Pikó H, et al. Orv Hetil. 2011 Sep 25;152(39):1576-85. doi: 10.1556/OH.2011.29179. Orv Hetil. 2011. PMID: 21920844 Hungarian.

8

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. Boczonadi V, et al. Among authors: piko h. Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287. Nat Commun. 2014. PMID: 24989451 Free PMC article.

9

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: piko h. 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.

10

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. Beke A, et al. Among authors: piko h. Mol Cytogenet. 2013 Dec 20;6(1):62. doi: 10.1186/1755-8166-6-62. Mol Cytogenet. 2013. PMID: 24359613 Free PMC article.

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