Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism

[Preprint]. 2025

Yadav R, Vaine CA, Domingo A, Reed S, Shah S, Gao D, O’Keefe K, Salani M, Lemanski J, Bhavsar R, McMahon MA, Jackson M, Courtney M, Murcar MG, Fernandez-Cerado C, Legarda GPA, Sy M, Velasco-Andrada MS, Muñoz EL, Ang MAC, Diesta CCE, Erdin S, Penney EB, Ozelius L, Sharma N, Bennett CF, Bragg DC, Talkowski ME.