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leigh-syndrome
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RNDr. Hana Štufková Ph.D.
Akademický pracovník na 1. lékařská fakulta
16 publikací
Publikace
publication
Different laboratory and muscle biopsy findings in a family with an m.8851T > C mutation in the mitochondrial MTATP6 gene
2013 |
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
Sideroblastic anemia associated with multisystem mitochondrial disorders
2019 |
1. lékařská fakulta, 2. 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