Petra Zavadáková

The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

Terttu Suormala, Matthias R. Baumgartner, David Coelho et al. · Journal of Biological Chemistry · 2004 · 119 citations · Full text

Loss of function mutations in<i>HARS</i>cause a spectrum of inherited peripheral neuropathies

Dana Šafka Brožková, Tine Deconinck, Laurie B. Griffin et al. · Brain · 2015 · 83 citations · Full text

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

Katerina Homolova, Petra Zavadáková, Thomas Koed Doktor et al. · Human Mutation · 2010 · 56 citations · Full text

C Mutation, Deep Intronic C.903+469t, Genetics +19

Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure

Sandrine Caburet, Petra Zavadáková, Ziva Ben‐Neriah et al. · PLoS ONE · 2012 · 49 citations · Full text

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

Petra Zavadáková, Brian Fowler, J Zeman et al. · Journal of Inherited Metabolic Disease · 2002 · 47 citations