Hana Štufková

发表

A transgenic minipig model of Huntington's disease shows early signs of behavioral and molecular pathologies

J. Klempír, M. Bjørås, A. Klungland, 2018, Disease Models & Mechanisms.

Sideroblastic anemia associated with multisystem mitochondrial disorders

M. Tesařová, J. Zeman, J. Starý, 2018, Pediatric blood & cancer.

Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington’s disease

J. Roth, J. Klempír, J. Zeman, 2022, Ultrastructural pathology.

A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome

M. Tesařová, J. Zeman, T. Honzík, 2022, Genes.

Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic Minipigs

J. Zeman, D. Howland, J. Motlík, 2017, Neurodegenerative Diseases.

Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells

O. Kuda, M. Tesařová, J. Křížová, 2021, International journal of molecular sciences.

Deterioration of mitochondrial bioenergetics and ultrastructure impairment in skeletal muscle of a transgenic minipig model in the early stages of Huntington's disease

J. Zeman, L. Eide, J. Motlík, 2019, Disease Models & Mechanisms.

Skeletal muscle in an early manifest transgenic minipig model of Huntington's disease revealed deterioration of mitochondrial bioenergetics and ultrastructure impairment.

J. Zeman, L. Eide, J. Motlík, 2019, Disease models & mechanisms.

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

M. Skopkova, D. Gašperíková, M. Karhanek, 2023, Orphanet Journal of Rare Diseases.

Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes

M. Tesařová, Václav Martínek, T. Honzík, 2023, Frontiers in Genetics.