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Showing 1–3 of 3 results
Advanced filters: Author: Chiara Panicucci Clear advanced filters
  • di Vito, Hassan et al. investigate the impact of SMN deficiency on taurine homeostasis in SMA mice and patients. They find reduced taurine levels in both the brainstem of SMA mice and in the cerebrospinal fluid of SMA type 1 patients. Importantly, Nusinersen treatment restores taurine levels in these children, highlighting the essential role of SMN in maintaining amino acid and neurotransmitter balance.

    • Raffaella di Vito
    • Amber Hassan
    • Alessandro Usiello
    ResearchOpen Access
    Communications Medicine
    P: 1-9
  • Nuzzo, Russo, Errico, D’Amico et al. investigate neuroinflammation in forty-eight pediatric spinal muscular atrophy patients before and after Nusinersen treatment. They find signatures of neuroinflammation that are specifically associated with severe disease and show that Nusinersen therapy has neuro-immunomodulatory effects.

    • Tommaso Nuzzo
    • Rosita Russo
    • Alessandro Usiello
    ResearchOpen Access
    Communications Medicine
    Volume: 3, P: 1-9