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Authors
Walvekar, Adhish S. https://orcid.org/0000-0001-7344-7653
Warmoes, Marc https://orcid.org/0000-0002-6632-3764
Cheung, Dean https://orcid.org/0009-0005-5890-2140
Sikora, Tim https://orcid.org/0000-0002-7445-9207
Seyedkatouli, Najmesadat https://orcid.org/0000-0003-3539-9640
Gomez-Giro, Gemma https://orcid.org/0000-0002-7259-5002
Perrone, Sebastian https://orcid.org/0000-0002-1219-6579
Dengler, Lisa https://orcid.org/0009-0002-4581-9717
Unger, François https://orcid.org/0009-0001-1236-6283
Santos, Bruno F. R. https://orcid.org/0000-0002-8849-576X
Gavotto, Floriane https://orcid.org/0000-0001-9793-3680
Dong, Xiangyi https://orcid.org/0009-0003-6108-0016
Becker-Kettern, Julia https://orcid.org/0009-0008-5424-3274
Kwon, Yong-Jun https://orcid.org/0000-0002-7249-3014
Jäger, Christian https://orcid.org/0000-0003-4235-7430
Schwamborn, Jens C. https://orcid.org/0000-0003-4496-0559
Van Bergen, Nicole J. https://orcid.org/0000-0002-6768-3665
Christodoulou, John https://orcid.org/0000-0002-8431-0641
Linster, Carole L. https://orcid.org/0000-0001-7143-0719
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Funding
Funding for this research was provided by:
Fonds National de la Recherche Luxembourg (C18/BM/12661133, PRIDE19/14063202 (doctoral training unit ACTIVE))
Juniclair Foundation
Mito Foundation
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Article History
Received: 31 December 2023
Accepted: 18 December 2024
First Online: 9 January 2025
Declarations
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: All patient cell lines used in this study were obtained following ethical approval and consent as described in our previous study, which provides detailed clinical and genetic information []. Case 1 was recruited as part of a gene discovery program in children with undiagnosed neurological disease from the Sydney Children’s Hospital Network (10/CHW/113), and case 3 was recruited from Kasturba Hospital, Manipal, India (IEC 570/2015). Cases 2 and 4 consented for NHS diagnostic tests for clinical purposes, which included collection of skin biopsies for use in research and consent for publication. These clinical diagnostic services were provided by University of Exeter Medical School, Exeter, UK and Birmingham Children’s Hospital, Birmingham, UK between 2016 and 2017. All institutes acted on the Helsinki Declaration of 1975, as revised in 2000. Written informed consent was obtained from the carers or parents on behalf of the patients.
: Not applicable.
: The authors declare that they have no conflicts of interest with the contents of this article.
