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Neurofilament light chain in serum of adolescent and adult SMA patients under treatment with nusinersen

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    5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2

    Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2, and there is no con...

    Katharina Vill, Moritz Tacke, Anna König, Matthias Baumann… in Journal of Neurology (2024)

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