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Ultrastructural Pathology|August 10, 2022
Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington's diseaseMarie Vanisova, Hana Stufkova, Michaela Kohoutova, et al.
Orphanet Journal of Rare Diseases|April 24, 2023
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variabilityMartina Skopkova, Hana Stufkova, Vibhuti Rambani, et al.
Pediatric Blood & Cancer|December 28, 2018
Sideroblastic anemia associated with multisystem mitochondrial disordersMarketa Tesarova, Alzbeta Vondrackova, Hana Stufkova, et al.
Disease Models & Mechanisms|July 7, 2019
Deterioration of mitochondrial bioenergetics and ultrastructure impairment in skeletal muscle of a transgenic minipig model in the early stages of Huntington's diseaseMarie Rodinova, Jana Krizova, Hana Stufkova, et al.
Neuro-Degenerative Diseases|June 21, 2017
Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic MinipigsJana Krizova, Hana Stufkova, Marie Rodinova, et al.
Brain : a Journal of Neurology|November 14, 2025
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophyClaudio Fiorini, Neringa Jurkute, Alessandra Torraco, et al.
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