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)

Dataset

Description

elettroferogrammi a conferma della mutazione nel probando II3 e la segregazione della mutazione nella famiglia
Date made availableFeb 25 2021
PublisherZenodo
  • 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. & 14 others, 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., Mar 2021, In: Annals of Neurology. 89, 3, p. 485-497 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Citations (Scopus)

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