The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy

Jonasz J. Weber, Leah Czisch, Priscila Pereira Sena, Florian Fath, Chrisovalantou Huridou, Natasa Schwarz, Rana D. Incebacak Eltemur, Anna Würth, Daniel Weishäupl, Miriam Döcker, Gunnar Blumenstock, Sandra Martins, Jorge Sequeiros, Guy A. Rouleau, Laura Bannach Jardim, Maria-Luiza Saraiva-Pereira, Marcondes C. França, Carlos R. Gordon, Roy Zaltzman, Mario R. Cornejo-Olivas, Bart P. C. van de Warrenburg, Alexandra Durr, Alexis Brice, Peter Bauer, Thomas Klockgether, Ludger Schöls, Olaf Riess, Unknown, Peter Bauer, José Berciano, Sylvia Boesch, Alexis Brice, Alexandra Durr, Sylvie Forlani, Paola Giunti, Heike Jacobi, Thomas Klockgether, Bela Melegh, Massimo Pandolfo, Olaf Riess, Tanja Schmitz-Hübsch, Ludger Schöls, Jörg B. Schulz, Giovanni Stevanin, Sandra Szymanski, Sophie Tezenas du Montcel, Dagmar Timmann, Bart P. C. van de Warrenburg, Thorsten Schmidt

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DOI: 10.1007/s00401-024-02762-6
Published: 2024-08-01
Container: Acta Neuropathologica
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1007/s00401-024-02762-6,
  title = {The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy},
  author = {Jonasz J. Weber and Leah Czisch and Priscila Pereira Sena and Florian Fath and Chrisovalantou Huridou and Natasa Schwarz and Rana D. Incebacak Eltemur and Anna Würth and Daniel Weishäupl and Miriam Döcker and Gunnar Blumenstock and Sandra Martins and Jorge Sequeiros and Guy A. Rouleau and Laura Bannach Jardim and Maria-Luiza Saraiva-Pereira and Marcondes C. França and Carlos R. Gordon and Roy Zaltzman and Mario R. Cornejo-Olivas and Bart P. C. van de Warrenburg and Alexandra Durr and Alexis Brice and Peter Bauer and Thomas Klockgether and Ludger Schöls and Olaf Riess and Unknown and Peter Bauer and José Berciano and Sylvia Boesch and Alexis Brice and Alexandra Durr and Sylvie Forlani and Paola Giunti and Heike Jacobi and Thomas Klockgether and Bela Melegh and Massimo Pandolfo and Olaf Riess and Tanja Schmitz-Hübsch and Ludger Schöls and Jörg B. Schulz and Giovanni Stevanin and Sandra Szymanski and Sophie Tezenas du Montcel and Dagmar Timmann and Bart P. C. van de Warrenburg and Thorsten Schmidt},
  year = {2024},
  journal = {Acta Neuropathologica},
  doi = {10.1007/s00401-024-02762-6},
  url = {https://doi.org/10.1007/s00401-024-02762-6}
}

RIS

TY  - JOUR
TI  - The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy
AU  - Jonasz J. Weber
AU  - Leah Czisch
AU  - Priscila Pereira Sena
AU  - Florian Fath
AU  - Chrisovalantou Huridou
AU  - Natasa Schwarz
AU  - Rana D. Incebacak Eltemur
AU  - Anna Würth
AU  - Daniel Weishäupl
AU  - Miriam Döcker
AU  - Gunnar Blumenstock
AU  - Sandra Martins
AU  - Jorge Sequeiros
AU  - Guy A. Rouleau
AU  - Laura Bannach Jardim
AU  - Maria-Luiza Saraiva-Pereira
AU  - Marcondes C. França
AU  - Carlos R. Gordon
AU  - Roy Zaltzman
AU  - Mario R. Cornejo-Olivas
AU  - Bart P. C. van de Warrenburg
AU  - Alexandra Durr
AU  - Alexis Brice
AU  - Peter Bauer
AU  - Thomas Klockgether
AU  - Ludger Schöls
AU  - Olaf Riess
AU  - Unknown
AU  - Peter Bauer
AU  - José Berciano
AU  - Sylvia Boesch
AU  - Alexis Brice
AU  - Alexandra Durr
AU  - Sylvie Forlani
AU  - Paola Giunti
AU  - Heike Jacobi
AU  - Thomas Klockgether
AU  - Bela Melegh
AU  - Massimo Pandolfo
AU  - Olaf Riess
AU  - Tanja Schmitz-Hübsch
AU  - Ludger Schöls
AU  - Jörg B. Schulz
AU  - Giovanni Stevanin
AU  - Sandra Szymanski
AU  - Sophie Tezenas du Montcel
AU  - Dagmar Timmann
AU  - Bart P. C. van de Warrenburg
AU  - Thorsten Schmidt
PY  - 2024
JO  - Acta Neuropathologica
DO  - 10.1007/s00401-024-02762-6
UR  - https://doi.org/10.1007/s00401-024-02762-6
ER  -

APA

Weber, J. J., Czisch, L., Sena, P. P., Fath, F., Huridou, C., Schwarz, N., Eltemur, R. D. I., Würth, A., Weishäupl, D., Döcker, M., Blumenstock, G., Martins, S., Sequeiros, J., Rouleau, G. A., Jardim, L. B., Saraiva-Pereira, M., França, M. C., Gordon, C. R., Zaltzman, R., Cornejo-Olivas, M. R., Warrenburg, B. P. C. V. D., Durr, A., Brice, A., Bauer, P., Klockgether, T., Schöls, L., Riess, O., Unknown, Bauer, P., Berciano, J., Boesch, S., Brice, A., Durr, A., Forlani, S., Giunti, P., Jacobi, H., Klockgether, T., Melegh, B., Pandolfo, M., Riess, O., Schmitz-Hübsch, T., Schöls, L., Schulz, J. B., Stevanin, G., Szymanski, S., Montcel, S. T. D., Timmann, D., Warrenburg, B. P. C. V. D., & Schmidt, T. (2024). The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy. Acta Neuropathologica. https://doi.org/10.1007/s00401-024-02762-6

Source records

crossref · retrieved 2026-09-25T09:33:11.094Z