Data related to Article "EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia"

  • Shey Lin Wu (Contributor)
  • Chiung C. Chen (Contributor)
  • Marialuisa Quadri (Contributor)
  • Niccolò E. Mencacci (Contributor)
  • Demy Kuipers (Contributor)
  • Krishna Kandaswamy (Contributor)
  • Inge A. Meijer (Contributor)
  • Hsiu Chen Chang (Contributor)
  • Christine Klein (Contributor)
  • Aida M. Bertoli-Avella (Contributor)
  • Chin Song Lu (Contributor)
  • Yi Hsin Weng (Contributor)
  • Celeste Panteghini (Contributor)
  • Nicolas Marotta (Contributor)
  • Bradley Osterman (Contributor)
  • Jens Volkmann (Contributor)
  • Miryam Carecchio (Contributor)
  • Martje G. Pauly (Contributor)
  • Yah Huei Wu-Chou (Contributor)
  • Baiba Lace (Contributor)
  • Lena Sagi-Dain (Contributor)
  • Vincenzo Bonifati (Contributor)
  • Antonio E. Elia (Contributor)
  • Wim Mandemakers (Contributor)
  • Steven J. Lubbe (Contributor)
  • Vera Tadic (Contributor)
  • Barbara Garavaglia (Contributor)
  • Andrea A. Kühn (Contributor)
  • Katja Lohmann (Contributor)
  • Simone Olgiati (Contributor)
  • Tu-Hsueh Yeh (Contributor)
  • Guido J. Breedveld (Contributor)
  • Peter Bauer (Contributor)
  • Christina Fevga (Contributor)

資料集

Description

elettroferogrammi a conferma della mutazione nel probando II3 e la segregazione della mutazione nella famiglia
可用日期二月 25 2021
發行者Zenodo
  • EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

    Kuipers, D. J. S., Mandemakers, W., Lu, C. S., Olgiati, S., Breedveld, G. J., Fevga, C., Tadic, V., Carecchio, M., Osterman, B., Sagi-Dain, L., Wu-Chou, Y. H., Chen, C. C., Chang, H. C., Wu, S. L., Yeh, T. H., Weng, Y. H., Elia, A. E., Panteghini, C., Marotta, N., Pauly, M. G. 及其他14, Kühn, A. A., Volkmann, J., Lace, B., Meijer, I. A., Kandaswamy, K., Quadri, M., Garavaglia, B., Lohmann, K., Bauer, P., Mencacci, N. E., Lubbe, S. J., Klein, C., Bertoli-Avella, A. M. & Bonifati, V., 三月 2021, 於: Annals of Neurology. 89, 3, p. 485-497 13 p.

    研究成果: 雜誌貢獻文章同行評審

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    7 引文 斯高帕斯(Scopus)

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