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- A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient With Dystonia-Parkinsonism
- Giulia Di Rauso, Francesco Cavallieri, Edoardo Monfrini, Alessandro Fraternali, Valentina Fioravanti, Sara Grisanti, Annalisa Gessani, Isabella Campanini, Andrea Merlo, Giulia Toschi, Manuela Napoli, Rosario Pascarella, Rosamaria Silipigni, Palma Finelli, Jefri J. Paul, Peter Bauer, Annibale Versari, Alessio Di Fonzo, Franco Valzania
- J Mov Disord. 2024;17(2):236-238. Published online January 23, 2024
- DOI: https://doi.org/10.14802/jmd.23222
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Citations to this article as recorded by
- Long-term efficiency of pallidal DBS and the role of Levodopa treatment in DYT-GNAL and 18p deletion syndrome associated dystonia: an observational study and review of literature
Johanna Reimer, Friederike Schumann, Katja Lohmann, Thomas G. Riemer, Joachim K. Krauss, Gerd-Helge Schneider, Andrea A. Kühn, Patricia Krause
Journal of Neural Transmission.2026;[Epub] CrossRef - Clinical and molecular characterization of 18p deletion syndrome and a novel case with reproductive disorder
Xia Cheng, Liang Xu, Jiatao Wu, Li Zhang, Xueting Wei, Shengping Min, Yaping Liao
Molecular Cytogenetics.2026;[Epub] CrossRef - Monosomy 18p with Unbalanced Translocation Between 13 and 18 Chromosomes: First Reported Case in Serbia
Bojana Marković, Marina Gazdić Janković, Zoran Igrutinović, Raša Medović, Nevena Stojadinović, Biljana Ljujić
Diagnostics.2025; 15(3): 358. CrossRef - Tremulous Dystonia Due to GNAL Haploinsufficiency Caused by 18p Deletion Syndrome
Arianna Braccia, Miryam Carecchio, Francesca Luisa Sciacca, Anna Castagna, Antonio Emanuele Elia, Luigi Michele Romito
Journal of Movement Disorders.2024; 17(3): 354. CrossRef
- Long-term efficiency of pallidal DBS and the role of Levodopa treatment in DYT-GNAL and 18p deletion syndrome associated dystonia: an observational study and review of literature
- A Novel Pathogenic PSEN1 Variant in a Patient With Dystonia-Parkinsonism Without Dementia
- Maria Chiara Malaguti, Alessio Di Fonzo, Chiara Longo, Raffaella Di Giacopo, Costanza Papagno, Davide Donner, Umberto Rozzanigo, Edoardo Monfrini
- J Mov Disord. 2024;17(1):102-105. Published online September 14, 2023
- DOI: https://doi.org/10.14802/jmd.23125
- 3,823 View
- 95 Download
- 1 Web of Science
- 1 Crossref
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Citations
Citations to this article as recorded by- Biological Nanotherapeutics Derived From Human Umbilical Cord Mesenchymal Stem Cells: Mechanisms and Translational Potential in Multisystem Therapies for Regeneration and Oncology
Ruirui Zhang, Zhipeng Xu, Shijie Xu, Rong Li, Hui Qian
International Journal of Nanomedicine.2025; Volume 20: 12117. CrossRef
- Biological Nanotherapeutics Derived From Human Umbilical Cord Mesenchymal Stem Cells: Mechanisms and Translational Potential in Multisystem Therapies for Regeneration and Oncology
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