Jitka Sokolová

Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders

M. Elleder, Jitka Sokolová · Acta Neuropathologica · 1997 · 135 citations

Batten Disease, Mitochondrial Function, Genetic Disorder +10

The Human Cystathionine β-Synthase (CBS) Gene: Complete Sequence, Alternative Splicing, and Polymorphisms

Jan P. Kraus, Jana Oliveriusová, Jitka Sokolová et al. · Genomics · 1998 · 123 citations

Complete Sequence, Genetic Disorder, Medicine +12

Folate Deficiency Is Associated With Oxidative Stress, Increased Blood Pressure, and Insulin Resistance in Spontaneously Hypertensive Rats

Michal Pravenec, Viktor Kožich, Jakub Krijt et al. · American Journal of Hypertension · 2012 · 87 citations · Full text

Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria

Miroslav Janošı́k, Jana Oliveriusová, Bohumila Janošı́ková et al. · The American Journal of Human Genetics · 2001 · 80 citations · Full text

Biosynthesis, Biochemistry, Natural Sciences +7

Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

Patricie Burda, Alexandra Schäfer, Terttu Suormala et al. · Human Mutation · 2015 · 78 citations

Genetics, Pathology, Molecular Biology +19