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Showing 1–2 of 2 results
Advanced filters: Author: Melanie S Keßler Clear advanced filters

  • Here the authors compare genetic testing strategies in rare movement disorders, improve diagnostic yield with genome analysis, and establish CD99L2 as an X-linked spastic ataxia gene, showing that CD99L2–CAPN1 signaling disruption likely drives neurodegeneration.

    • Benita Menden
    • Rana D. Incebacak Eltemur
    • Tobias B. Haack
    ResearchOpen Access
    Nature Communications
    Volume: 17, P: 1-21