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RNDr. Hana Štufková Ph.D.
Akademický pracovník na 1. lékařská fakulta
16 publikací
Publikace
publication
Sideroblastic anemia associated with multisystem mitochondrial disorders
2019 |
1. lékařská fakulta, 2. lékařská fakulta
publication
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes
+1
2023 |
1. lékařská fakulta, Přírodovědecká fakulta
publication
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
2023 |
1. lékařská fakulta
publication
A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome
2022 |
1. lékařská fakulta
publication
Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington's disease
2022 |
1. lékařská fakulta
publication
Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells
2021 |
1. lékařská fakulta
publication
Deterioration of mitochondrial bioenergetics and ultrastructure impairment in skeletal muscle of a transgenic minipig model in the early stages of Huntington's disease
2019 |
1. lékařská fakulta
publication
A transgenic minipig model of Huntington's disease shows early signs of behavioral and molecular pathologies
2018 |
1. lékařská fakulta, Přírodovědecká fakulta, Ústřední knihovna
publication
Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic Minipigs
2017 |
1. lékařská fakulta
publication
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
2016 |
1. lékařská fakulta
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