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Search for publications relevant for "myoclonus epilepsy"
myoclonus epilepsy
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publication
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
2022 |
First Faculty of Medicine
publication
Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres (MERF) at position 8344 nt
1999 |
Publication without faculty affiliation
publication
Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ( MERRF ) at position 8344 nt.
1999 |
Faculty of Physical Education and Sport
publication
Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane Potential in fibroblats and cytoplasmic hybrid cells with the mutation for myoclonus Epilepsy with ragged-red fibres ( MERRF) at position 8344 nt.
1999 |
Faculty of Physical Education and Sport
publication
A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome
2022 |
First Faculty of Medicine