De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, Dominic Lenz, Axel Schmidt, Philipp Peters, Robert Kopajtich, Malin Zaddach, Hanna Zimmermann, Irina Hüning, Diana Ballhausen, Christian Staufner, Alyssa Bianzano, Joanne Hughes, Robert Taylor, Robert McFarland, Anita Devlin, Mihaela Mihaljević, Nina Barišić, Meino Rohlfs, Sibylle Wilfling, Neal Sondheimer, Stacy Hewson, Nikolaos M. Marinakis, Konstantina Kosma, Joanne Traeger-Synodinos, Miriam Elbracht, Matthias Begemann, Sonja Trepels-Kottek, Dimah Hasan, Marcello Scala, Valeria Capra, Federico Zara, Amelie T. van der Ven, Joenna Driemeyer, Christian Apitz, Johannes Krämer, Alanna Strong, Hakon Hakonarson, Deborah Watson, Johannes A. Mayr, Holger Prokisch, Thomas Meitinger, Ingo Borggraefe, Juliane Spiegler, Ivo Baric, Marco Paolini, Lucia Gerstl, Matias Wagner

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DOI: 10.25405/ncl.34490583.v1
Published: 2026
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Publisher: Newcastle University
Open access: no

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Cite this work

BibTeX

@article{allodium:10.25405/ncl.34490583.v1,
  title = {De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke},
  author = {Theresa Brunet and Benedikt Zott and Victoria Lieftüchter and Dominic Lenz and Axel Schmidt and Philipp Peters and Robert Kopajtich and Malin Zaddach and Hanna Zimmermann and Irina Hüning and Diana Ballhausen and Christian Staufner and Alyssa Bianzano and Joanne Hughes and Robert Taylor and Robert McFarland and Anita Devlin and Mihaela Mihaljević and Nina Barišić and Meino Rohlfs and Sibylle Wilfling and Neal Sondheimer and Stacy Hewson and Nikolaos M. Marinakis and Konstantina Kosma and Joanne Traeger-Synodinos and Miriam Elbracht and Matthias Begemann and Sonja Trepels-Kottek and Dimah Hasan and Marcello Scala and Valeria Capra and Federico Zara and Amelie T. van der Ven and Joenna Driemeyer and Christian Apitz and Johannes Krämer and Alanna Strong and Hakon Hakonarson and Deborah Watson and Johannes A. Mayr and Holger Prokisch and Thomas Meitinger and Ingo Borggraefe and Juliane Spiegler and Ivo Baric and Marco Paolini and Lucia Gerstl and Matias Wagner},
  year = {2026},
  doi = {10.25405/ncl.34490583.v1},
  url = {https://doi.org/10.25405/ncl.34490583.v1}
}

RIS

TY  - JOUR
TI  - De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
AU  - Theresa Brunet
AU  - Benedikt Zott
AU  - Victoria Lieftüchter
AU  - Dominic Lenz
AU  - Axel Schmidt
AU  - Philipp Peters
AU  - Robert Kopajtich
AU  - Malin Zaddach
AU  - Hanna Zimmermann
AU  - Irina Hüning
AU  - Diana Ballhausen
AU  - Christian Staufner
AU  - Alyssa Bianzano
AU  - Joanne Hughes
AU  - Robert Taylor
AU  - Robert McFarland
AU  - Anita Devlin
AU  - Mihaela Mihaljević
AU  - Nina Barišić
AU  - Meino Rohlfs
AU  - Sibylle Wilfling
AU  - Neal Sondheimer
AU  - Stacy Hewson
AU  - Nikolaos M. Marinakis
AU  - Konstantina Kosma
AU  - Joanne Traeger-Synodinos
AU  - Miriam Elbracht
AU  - Matthias Begemann
AU  - Sonja Trepels-Kottek
AU  - Dimah Hasan
AU  - Marcello Scala
AU  - Valeria Capra
AU  - Federico Zara
AU  - Amelie T. van der Ven
AU  - Joenna Driemeyer
AU  - Christian Apitz
AU  - Johannes Krämer
AU  - Alanna Strong
AU  - Hakon Hakonarson
AU  - Deborah Watson
AU  - Johannes A. Mayr
AU  - Holger Prokisch
AU  - Thomas Meitinger
AU  - Ingo Borggraefe
AU  - Juliane Spiegler
AU  - Ivo Baric
AU  - Marco Paolini
AU  - Lucia Gerstl
AU  - Matias Wagner
PY  - 2026
DO  - 10.25405/ncl.34490583.v1
UR  - https://doi.org/10.25405/ncl.34490583.v1
ER  -

APA

Brunet, T., Zott, B., Lieftüchter, V., Lenz, D., Schmidt, A., Peters, P., Kopajtich, R., Zaddach, M., Zimmermann, H., Hüning, I., Ballhausen, D., Staufner, C., Bianzano, A., Hughes, J., Taylor, R., McFarland, R., Devlin, A., Mihaljević, M., Barišić, N., Rohlfs, M., Wilfling, S., Sondheimer, N., Hewson, S., Marinakis, N. M., Kosma, K., Traeger-Synodinos, J., Elbracht, M., Begemann, M., Trepels-Kottek, S., Hasan, D., Scala, M., Capra, V., Zara, F., Ven, A. T. V. D., Driemeyer, J., Apitz, C., Krämer, J., Strong, A., Hakonarson, H., Watson, D., Mayr, J. A., Prokisch, H., Meitinger, T., Borggraefe, I., Spiegler, J., Baric, I., Paolini, M., Gerstl, L., & Wagner, M. (2026). De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke. https://doi.org/10.25405/ncl.34490583.v1

Source records

datacite · retrieved 2026-11-10T10:39:29.806Z