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Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients Cover

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients

Endocrine Regulations
Volume 52 (2018): Issue 2 (April 2018)
By: Daniel Danis,  Katarina Brennerova,  Martina Skopkova,  Timea Kurdiova,  Jozef Ukropec,  Juraj Stanik,  Miriam Kolnikova and  Daniela Gasperikova  
Open Access
|Apr 2018

Authors

Daniel Danis

Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia

Katarina Brennerova

Department of Paediatrics, Medical Faculty, Comenius University, Children Faculty Hospital, Bratislava, Slovakia

Martina Skopkova

Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia

Timea Kurdiova

Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia

Jozef Ukropec

Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia

Juraj Stanik

Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia
Department of Paediatrics, Medical Faculty, Comenius University, Children Faculty Hospital, Bratislava, Slovakia

Miriam Kolnikova

Department of Pediatric Neurology, Medical Faculty, Comenius University, Children Faculty Hospital, Bratislava, Slovakia

Daniela Gasperikova

daniela.gasperikova@savba.sk

Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia
DOI: https://doi.org/10.2478/enr-2018-0013 | Journal eISSN: 1336-0329 | Journal ISSN: 1210-0668
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Language: English
Page range: 110 - 118
Published on: Apr 30, 2018
Published by: Slovak Academy of Sciences, Institute of Experimental Endocrinology
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
Leigh syndrome,
mitochondrial disease,
SURF1,
whole exome sequencing
Related subjects:
Life sciences,
Molecular biology,
Neurobiology,
Medicine,
Basic medical science,
Basic medical science, other,
Clinical medicine,
Internal medicine,
Endocrinology, diabetology

© 2018 Daniel Danis, Katarina Brennerova, Martina Skopkova, Timea Kurdiova, Jozef Ukropec, Juraj Stanik, Miriam Kolnikova, Daniela Gasperikova, published by Slovak Academy of Sciences, Institute of Experimental Endocrinology
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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