Zavadakova P - Search Results

1

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.

Azzedine H, Zavadakova P, Planté-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Médard JJ, Makowski E, Schöls L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R. Azzedine H, et al. Among authors: zavadakova p. Hum Mol Genet. 2013 Oct 15;22(20):4224-32. doi: 10.1093/hmg/ddt274. Epub 2013 Jun 17. Hum Mol Genet. 2013. PMID: 23777631 Free PMC article.

2

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Safka Brozkova D, Deconinck T, Griffin LB, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, Antonellis A, Beg AA, De Jonghe P, Senderek J, Seeman P, Baets J. Safka Brozkova D, et al. Among authors: zavadakova p. Brain. 2015 Aug;138(Pt 8):2161-72. doi: 10.1093/brain/awv158. Epub 2015 Jun 13. Brain. 2015. PMID: 26072516 Free PMC article.

3

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria.

Homolova K, Zavadakova P, Doktor TK, Schroeder LD, Kozich V, Andresen BS. Homolova K, et al. Among authors: zavadakova p. Hum Mutat. 2010 Apr;31(4):437-44. doi: 10.1002/humu.21206. Hum Mutat. 2010. PMID: 20120036 Free PMC article.

4

CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.

Zavadakova P, Fowler B, Zeman J, Suormala T, Pristoupilová K, Kozich V, Zavad'áková P. Zavadakova P, et al. J Inherit Metab Dis. 2002 Oct;25(6):461-76. doi: 10.1023/a:1021299117308. J Inherit Metab Dis. 2002. PMID: 12555939

5

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

Zavadáková P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kozich V. Zavadáková P, et al. Hum Mutat. 2005 Mar;25(3):239-47. doi: 10.1002/humu.20131. Hum Mutat. 2005. PMID: 15714522

6

Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population?

Janosíková B, Zavadáková P, Kozich V. Janosíková B, et al. Among authors: zavadakova p. Eur J Hum Genet. 2005 Jan;13(1):86-95. doi: 10.1038/sj.ejhg.5201282. Eur J Hum Genet. 2005. PMID: 15494741

7

CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene.

Vilaseca MA, Vilarinho L, Zavadakova P, Vela E, Cleto E, Pineda M, Coimbra E, Suormala T, Fowler B, Kozich V. Vilaseca MA, et al. Among authors: zavadakova p. J Inherit Metab Dis. 2003;26(4):361-9. doi: 10.1023/a:1025159103257. J Inherit Metab Dis. 2003. PMID: 12971424

8

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

Suormala T, Baumgartner MR, Coelho D, Zavadakova P, Kozich V, Koch HG, Berghaüser M, Wraith JE, Burlina A, Sewell A, Herwig J, Fowler B. Suormala T, et al. Among authors: zavadakova p. J Biol Chem. 2004 Oct 8;279(41):42742-9. doi: 10.1074/jbc.M407733200. Epub 2004 Aug 2. J Biol Chem. 2004. PMID: 15292234 Free article.

9

Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure.

Caburet S, Zavadakova P, Ben-Neriah Z, Bouhali K, Dipietromaria A, Charon C, Besse C, Laissue P, Chalifa-Caspi V, Christin-Maitre S, Vaiman D, Levi G, Veitia RA, Fellous M. Caburet S, et al. Among authors: zavadakova p. PLoS One. 2012;7(3):e33412. doi: 10.1371/journal.pone.0033412. Epub 2012 Mar 13. PLoS One. 2012. PMID: 22428046 Free PMC article.

10

Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria.

Cudré-Cung HP, Zavadakova P, do Vale-Pereira S, Remacle N, Henry H, Ivanisevic J, Tavel D, Braissant O, Ballhausen D. Cudré-Cung HP, et al. Among authors: zavadakova p. Mol Genet Metab. 2016 Sep;119(1-2):57-67. doi: 10.1016/j.ymgme.2016.07.013. Epub 2016 Jul 30. Mol Genet Metab. 2016. PMID: 27599447 Free article.

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