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myoclonus
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Studium
RNDr. Lucie Rychtárová Ph.D.
Extern í osoba na 1. lékařská fakulta
8 publikací
Publikace
publication
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
2022 |
1. lékařská fakulta
publication
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches
2023 |
1. lékařská fakulta
publication
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG
2023 |
1. lékařská fakulta
publication
Comparable respiratory activity in attached and suspended human fibroblasts
2022 |
1. lékařská fakulta
publication
New-Generation Heterocyclic Bis-Pentamethinium Salts as Potential Cytostatic Drugs with Dual IL-6R and Mitochondria-Targeting Activity
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. léka řská fakulta
publication
A new role for dolichol isoform profile in the diagnostics of CDG disorders
2020 |
1. lékařská fakulta
publication
Dědičné poruchy glykosylace: alfa-dystroglykanopatie
2017 |
1. lékařská fakulta
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