Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.
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| Title: | Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism. |
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| Authors: | Yadav R; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Vaine CA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Domingo A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Reed S; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Shah S; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Gao D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Keefe K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Salani M; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lemanski J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Bhavsar R; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., McMahon MA; Ionis Pharmaceuticals, Carlsbad, CA, USA., Jackson M; Ionis Pharmaceuticals, Carlsbad, CA, USA., Courtney M; Ionis Pharmaceuticals, Carlsbad, CA, USA., Murcar MG; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Fernandez-Cerado C; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines., Legarda GPA; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines., Sy M; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines., Velasco-Andrada MS; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines., Muñoz EL; Department of Pathology, College of Medicine, University of the Philippines, Manila, Philippines., Ang MAC; Department of Pathology, College of Medicine, University of the Philippines, Manila, Philippines., Diesta CCE; Movement Center of Makati Med Institute of Neurological, Neurosurgical and Behavioral Sciences, Makati City, Philippines., Erdin S; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Penney EB; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Ozelius L; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Sharma N; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bennett CF; Ionis Pharmaceuticals, Carlsbad, CA, USA., Bragg DC; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. |
| Source: | MedRxiv : the preprint server for health sciences [medRxiv] 2025 Oct 13. Date of Electronic Publication: 2025 Oct 13. |
| Publication Type: | Journal Article; Preprint |
| Journal Info: | Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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