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ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.

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  • معلومة اضافية
    • الموضوع:
      2020
    • Collection:
      DI-fusion : dépôt institutionnel de l'Université libre de Bruxelles (ULB)
    • نبذة مختصرة :
      Recently, the ASC-1 complex has been identified as a mechanistic link between amyotrophic lateral sclerosis and spinal muscular atrophy (SMA), and 3 mutations of the ASC-1 gene TRIP4 have been associated with SMA or congenital myopathy. Our goal was to define ASC-1 neuromuscular function and the phenotypical spectrum associated with TRIP4 mutations. ; info:eu-repo/semantics/published
    • File Description:
      1 full-text file(s): application/pdf
    • ISBN:
      978-85-07-71476-7
      85-07-71476-5
    • Relation:
      uri/info:doi/10.1002/ana.25660; uri/info:pmid/31794073; uri/info:scp/85077147655; uri/info:pmcid/PMC6980348; https://dipot.ulb.ac.be/dspace/bitstream/2013/307754/3/ASC1myopathy-Villar-Quiles.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/307754
    • الدخول الالكتروني :
      http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/307754
      https://dipot.ulb.ac.be/dspace/bitstream/2013/307754/3/ASC1myopathy-Villar-Quiles.pdf
    • الرقم المعرف:
      edsbas.FFBF66F4