ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
- Author
- Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Celeste Milani, Adamantia Deligiannopoulou, Ángeles García Cazorla, Se Song Jang, Natalia Juliá-Palacios, Boris Keren, Robert Kopajtich, Sally Ann Lynch, Cyril Mignot, Catherine Moorwood, Christiane Neuhofer, Vincenzo Nigro, Anna Oostra (UGent) , Holger Prokisch, Virginie Saillour, Nika Schuermans (UGent) , Annalaura Torella, PATRICK VERLOO (UGent) , Elise Yazbeck, Marcella Zollino, Robert Jech, Juliane Winkelmann, Jan Necpal, Tito Calì, Marisa Brini and Michael Zech
- Organization
- Keywords
- Ataxia, Dystonia, Plasma membraneCa2+ATPase, isoform 2, Neurodevelopmental disorder, PLASMA-MEMBRANE CA2+-ATPASE, PUMP, MUTATION, PATHOGENICITY
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Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-01JCJ51PPNZEPZVS1X3ADDR6YV
- MLA
- Poggio, Elena, et al. “ATP2B2 de Novo Variants as a Cause of Variable Neurodevelopmental Disorders That Feature Dystonia, Ataxia, Intellectual Disability, Behavioral Symptoms, and Seizures.” GENETICS IN MEDICINE, vol. 25, no. 12, 2023, doi:10.1016/j.gim.2023.100971.
- APA
- Poggio, E., Barazzuol, L., Salmaso, A., Milani, C., Deligiannopoulou, A., Cazorla, Á. G., … Zech, M. (2023). ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures. GENETICS IN MEDICINE, 25(12). https://doi.org/10.1016/j.gim.2023.100971
- Chicago author-date
- Poggio, Elena, Lucia Barazzuol, Andrea Salmaso, Celeste Milani, Adamantia Deligiannopoulou, Ángeles García Cazorla, Se Song Jang, et al. 2023. “ATP2B2 de Novo Variants as a Cause of Variable Neurodevelopmental Disorders That Feature Dystonia, Ataxia, Intellectual Disability, Behavioral Symptoms, and Seizures.” GENETICS IN MEDICINE 25 (12). https://doi.org/10.1016/j.gim.2023.100971.
- Chicago author-date (all authors)
- Poggio, Elena, Lucia Barazzuol, Andrea Salmaso, Celeste Milani, Adamantia Deligiannopoulou, Ángeles García Cazorla, Se Song Jang, Natalia Juliá-Palacios, Boris Keren, Robert Kopajtich, Sally Ann Lynch, Cyril Mignot, Catherine Moorwood, Christiane Neuhofer, Vincenzo Nigro, Anna Oostra, Holger Prokisch, Virginie Saillour, Nika Schuermans, Annalaura Torella, PATRICK VERLOO, Elise Yazbeck, Marcella Zollino, Robert Jech, Juliane Winkelmann, Jan Necpal, Tito Calì, Marisa Brini, and Michael Zech. 2023. “ATP2B2 de Novo Variants as a Cause of Variable Neurodevelopmental Disorders That Feature Dystonia, Ataxia, Intellectual Disability, Behavioral Symptoms, and Seizures.” GENETICS IN MEDICINE 25 (12). doi:10.1016/j.gim.2023.100971.
- Vancouver
- 1.Poggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla ÁG, et al. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures. GENETICS IN MEDICINE. 2023;25(12).
- IEEE
- [1]E. Poggio et al., “ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures,” GENETICS IN MEDICINE, vol. 25, no. 12, 2023.
@article{01JCJ51PPNZEPZVS1X3ADDR6YV,
articleno = {{100971}},
author = {{Poggio, Elena and Barazzuol, Lucia and Salmaso, Andrea and Milani, Celeste and Deligiannopoulou, Adamantia and Cazorla, Ángeles García and Jang, Se Song and Juliá-Palacios, Natalia and Keren, Boris and Kopajtich, Robert and Lynch, Sally Ann and Mignot, Cyril and Moorwood, Catherine and Neuhofer, Christiane and Nigro, Vincenzo and Oostra, Anna and Prokisch, Holger and Saillour, Virginie and Schuermans, Nika and Torella, Annalaura and VERLOO, PATRICK and Yazbeck, Elise and Zollino, Marcella and Jech, Robert and Winkelmann, Juliane and Necpal, Jan and Calì, Tito and Brini, Marisa and Zech, Michael}},
issn = {{1098-3600}},
journal = {{GENETICS IN MEDICINE}},
keywords = {{Ataxia,Dystonia,Plasma membraneCa2+ATPase,isoform 2,Neurodevelopmental disorder,PLASMA-MEMBRANE CA2+-ATPASE,PUMP,MUTATION,PATHOGENICITY}},
language = {{eng}},
number = {{12}},
pages = {{15}},
title = {{ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures}},
url = {{http://doi.org/10.1016/j.gim.2023.100971}},
volume = {{25}},
year = {{2023}},
}
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