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Showing 1–2 of 2 results
Advanced filters: Author: "Marka Van Blitterswijk" Clear advanced filters

  • In 2012, researchers published extensively on the genetic and clinicopathological characterization of patients with the newly discovered C9ORF72 repeat expansions, which cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Novel ALS-linked genes and genetic modifiers were identified through screening in animal models and patients.

    • Rosa Rademakers
    • Marka van Blitterswijk
    News & Views
    Nature Reviews Neurology
    Volume: 9, P: 63-64

  • The molecular mechanisms of neurodegeneration due to a repeat expansion in C9orf72, the most common cause of frontotemporal dementia and amyotrophic lateral sclerosis, are unknown. Three reports now link compromised nucleocytoplasmic transport to disease pathogenesis. Whether RNA structures or dipeptide repeat proteins are most toxic in humans remains open to question.

    • Marka van Blitterswijk
    • Rosa Rademakers
    News & Views
    Nature Reviews Neurology
    Volume: 11, P: 670-672