@article{089e89e8d4fc414fbe629445da65f912,
title = "Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism",
author = "Chizuru Ikeda and Toshitaka Kawarai and Chisa Setoyama and Antonio Orlacchio and Hoseki Imamura",
note = "Funding Information: This work was supported by the Japan Society for the Promotion of Science (JSPS KAKENHI Grant no. 19K0796200 to T.K.), the Ministry of Health, Labour and Welfare of Japan (Grants-in-Aid from the Research Committee of CNS Degenerative Diseases, and Research on rare and Intractable Diseases) (Grant to T.K.), the Japan Agency for Medical Research and Development, AMED (Grants-in-Aid from the Research Committee on Practical Research Project for Rare/Intractable Diseases, and Grants-in-Aid for the core hospitals for Initiative on Rare and Undiagnosed Diseases) (Grant to T.K.), the Health Labour Sciences Research Grant (Policy Research for Intractable Diseases, 2016-2018) (Grant to T.K.), the Italian Ministero della Salute (grant no. GR09.109 to A.O.), and the University of Perugia (Grant Fondo Ricerca di Base no. DSCH_BASE19_ORLACCHIO to A.O.). Ms. Chisa Setoyama carried out the research under academic supports through the Medical Scholars Research Program at the Tokushima University Graduate School. Acknowledgments Copyright: Copyright 2020 Elsevier B.V., All rights reserved.",
year = "2020",
month = oct,
doi = "10.1007/s10072-020-04758-y",
language = "English",
journal = "Neurological Sciences",
issn = "1590-1874",
publisher = "Springer-Verlag Italia s.r.l.",
}