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protein A
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RNDr. Hana Štufková Ph.D.
Academic staff at First Faculty of Medicine
16 publications
Publications
publication
Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells
2021 |
First Faculty of Medicine
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 |
First Faculty of Medicine
publication
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
2016 |
First Faculty of Medicine
publication
Acyl-CoA binding domain containing 3 (ACBD3) protein in Huntington's disease human skin fibroblasts
2015 |
First Faculty of Medicine
publication
Mitochondrial membrane assembly of TMEM70 protein
2014 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Expression and processing of the TMEM70 protein
2011 |
First Faculty of Medicine
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 |
First Faculty of Medicine, Faculty of Science
publication
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
2023 |
First Faculty of Medicine
publication
A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome
2022 |
First Faculty of Medicine
publication
Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington's disease
2022 |
First Faculty of Medicine
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