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- A novel GNAO1 variant associated with variable and mild phenotypes in a Spanish family
- Manuel Delgado-Alvarado, Miryam Carecchio, Esther Onecha, María Jesús Rivera, Jon Infante, Javier Riancho
- Received April 7, 2026 Accepted July 5, 2026 Published online July 6, 2026
- DOI: https://doi.org/10.14802/jmd.26110 [Accepted]
- 135 View
- 11 Download
- 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
- J Mov Disord. 2024;17(3):354-356. Published online May 13, 2024
- DOI: https://doi.org/10.14802/jmd.24080
- 3,313 View
- 110 Download
- 2 Web of Science
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- 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
- 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
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