Krepelova A - Search Results

1

Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.

Bendova S, Krepelova A, Petrak B, Kinstova L, Musova Z, Rausova E, Marikova T. Bendova S, et al. Among authors: krepelova a. J Mol Neurosci. 2007;31(3):273-9. doi: 10.1385/jmn:31:03:273. J Mol Neurosci. 2007. PMID: 17726231

2

Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients.

Musova Z, Sedlacek Z, Mazanec R, Klempir J, Roth J, Plevova P, Vyhnalek M, Kopeckova M, Apltova L, Krepelova A, Zumrova A. Musova Z, et al. Among authors: krepelova a. Cerebellum. 2013 Apr;12(2):155-61. doi: 10.1007/s12311-012-0403-5. Cerebellum. 2013. PMID: 22872568

3

A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.

Musova Z, Kaiserova M, Kriegova E, Fillerova R, Vasovcak P, Santava A, Mensikova K, Zumrova A, Krepelova A, Sedlacek Z, Kanovsky P. Musova Z, et al. Among authors: krepelova a. Cerebellum. 2014 Jun;13(3):331-7. doi: 10.1007/s12311-013-0538-z. Cerebellum. 2014. PMID: 24272953

4

First cases in the Czech Republic of the Hallervorden-Spatz disease resulting from mutation in the pantothenate kinase 2 gene.

Zumrová A, Krepelová A, Kyncl M, Maríková T, Prosková M, Cíbochová R, Sebronová V, Komárek V. Zumrová A, et al. Among authors: krepelova a. Neuro Endocrinol Lett. 2005 Jun;26(3):213-8. Neuro Endocrinol Lett. 2005. PMID: 15990724

5

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene.

Musova Z, Mazanec R, Krepelova A, Ehler E, Vales J, Jaklova R, Prochazka T, Koukal P, Marikova T, Kraus J, Havlovicova M, Sedlacek Z. Musova Z, et al. Among authors: krepelova a. Am J Med Genet A. 2009 Jul;149A(7):1365-74. doi: 10.1002/ajmg.a.32987. Am J Med Genet A. 2009. PMID: 19514047

6

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: further evidence for possible bias in retroposon integration.

Musova Z, Hedvicakova P, Mohrmann M, Tesarova M, Krepelova A, Zeman J, Sedlacek Z. Musova Z, et al. Among authors: krepelova a. Biochem Biophys Res Commun. 2006 Aug 18;347(1):145-9. doi: 10.1016/j.bbrc.2006.06.071. Epub 2006 Jun 21. Biochem Biophys Res Commun. 2006. PMID: 16808900

7

Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman.

Zumrová A, Mazanec R, Vyhnálek M, Krepelová A, Musová Z, Krilová S, Appltová L, Havlovicová M. Zumrová A, et al. Among authors: krepelova a. Neuro Endocrinol Lett. 2005 Feb;26(1):71-4. Neuro Endocrinol Lett. 2005. PMID: 15726025

8

Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.

Krutilkova V, Trkova M, Fleitz J, Gregor V, Novotna K, Krepelova A, Sumerauer D, Kodet R, Siruckova S, Plevova P, Bendova S, Hedvicakova P, Foreman NK, Sedlacek Z. Krutilkova V, et al. Among authors: krepelova a. Eur J Cancer. 2005 Jul;41(11):1597-603. doi: 10.1016/j.ejca.2005.01.026. Eur J Cancer. 2005. PMID: 15925506

9

Mutations in STK11 gene in Czech Peutz-Jeghers patients.

Vasovcák P, Puchmajerová A, Roubalík J, Krepelová A. Vasovcák P, et al. Among authors: krepelova a. BMC Med Genet. 2009 Jul 19;10:69. doi: 10.1186/1471-2350-10-69. BMC Med Genet. 2009. PMID: 19615099 Free PMC article.

10

Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients.

Vasovcak P, Pavlikova K, Sedlacek Z, Skapa P, Kouda M, Hoch J, Krepelova A. Vasovcak P, et al. Among authors: krepelova a. PLoS One. 2011;6(8):e24114. doi: 10.1371/journal.pone.0024114. Epub 2011 Aug 25. PLoS One. 2011. PMID: 21901162 Free PMC article.

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