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

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  1. Article

    Open Access

    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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  2. Article

    Open Access

    Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)

    Spinal muscular atrophy (SMA) issues from mutations in the survival of motor neuron (SMN) 1 gene. Loss or reduction of the SMN protein results in progressive muscle weakness. Whether this protein deficiency also ...

    Lucas Mix, Olivia Schreiber-Katz, Claudia D. Wurster… in Orphanet Journal of Rare Diseases (2021)

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  3. Article

    Open Access

    Genotypes and phenotypes of patients with Lafora disease living in Germany

    Lafora progressive myoclonus epilepsy (Lafora disease) is a rare, usually childhood-onset, fatal neurodegenerative disease caused by biallelic mutations in EPM2A (Laforin) or EPM2B (NHLRC1; Malin). The epidemiolo...

    David Brenner, Tobias Baumgartner, Sarah von Spiczak… in Neurological Research and Practice (2019)

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