Hana Hansíková

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Alena Čížková, Viktor Stránecký, Johannes A. Mayr et al. · Nature Genetics · 2008 · 197 citations

Mitochondrial Myopathy, Neonatal Mitochondrial Encephalocardiomyopathy, Mitochondrial Biogenesis +8

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch et al. · Journal of Medical Genetics · 2012 · 183 citations · Full text

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model

C Martins, Helena Hůlková, Larbi Dridi et al. · Brain · 2015 · 142 citations · Full text

Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

Eon Joo Park, Kariona A. Grabińska, Ziqiang Guan et al. · Cell Metabolism · 2014 · 138 citations · Full text

Signal Transduction, Mendelian Disorder, G Protein-coupled Receptor +10

A Transgenic Minipig Model of Huntington's Disease

Monika Baxa, Marián Hruška-Plocháň, Štefan Juhás et al. · Journal of Huntington s Disease · 2013 · 105 citations