Dita Mušálková

X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female

Martin Řeboun, Jitka Rybová, Robert Dobrovolný et al. · Folia Biologica · 2016 · 26 citations · Full text

Mendelian Disorder, Disease Mechanism, Genetic Disorder +14

A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Jakub Sikora, Tereza Kmochová, Dita Mušálková et al. · Kidney International · 2021 · 24 citations

Alzheimer's Disease, Genetic Disorder, Genetics +6

Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency

Dita Mušálková, Eva Sticová, Martin Řeboun et al. · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 2018 · 18 citations

Otc Deficiency, Developmental Biology, Genetic Disorder +6

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females

Marie Zikánová, Dawn M. Wahezi, Arielle Hay et al. · Lara D. Veeken · 2018 · 17 citations · Full text

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

Ivana Jedličková, Maxime Cadieux‐Dion, Anna Přistoupilová et al. · European Journal of Human Genetics · 2020 · 16 citations · Full text

Neuro-oncology, Genetic Disorder, Whole-exome Sequencing +5