Dana Šišková

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

Violeta Mihaylova, Juliane S. Müller, Juan J. Vílchez et al. · Brain · 2008 · 159 citations · Full text

Developmental Anomaly, Rare Diseases, Ache Deficiency +13

High frequency of SH3TC2 mutations in Czech HMSN I patients

Petra Laššuthová, Radim Mazanec, P. Vondráček et al. · Clinical Genetics · 2011 · 54 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +15

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

D. Skálová, J. Zídková, Jana Haberlová et al. · Clinical Genetics · 2016 · 32 citations

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies

Petra Laššuthová, Dana Šišková, Jana Haberlová et al. · Orphanet Journal of Rare Diseases · 2014 · 20 citations · Full text

A 71‐nucleotide deletion in the periaxin gene in a Romani patient with early‐onset slowly progressive demyelinating CMT

L. Baránková, Dana Šišková, Kathrin Hühne et al. · European Journal of Neurology · 2008 · 18 citations