MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.

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Bibliographic Details
Title: MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.
Authors: Mejia Maza A; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hincher M; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Correia K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Gillis T; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Nishiyama A; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Penney EB; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Domingo A; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Yadav R; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Murcar MG; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Villafria Mercado PD; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Han JS; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Norenberg EP; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Fernandez-Cerado C; Sunshine Care Foundation, Roxas City, Capiz, Philippines., Legarda GP; Sunshine Care Foundation, Roxas City, Capiz, Philippines., Sy M; Sunshine Care Foundation, Roxas City, Capiz, Philippines., Muñoz EL; Department of Pathology, College of Medicine, University of the Philippines, Manila, Philippines., Ang MC; Department of Pathology, College of Medicine, University of the Philippines, Manila, Philippines., Diesta CCE; Movement Center of Makati Institute of Neurological, Neurosurgical and Behavioral Sciences (MINDS), Makati, Philippines., Go C; Department of Neurology, Jose R. Reyes Memorial Medical Center, Metro Manila, Philippines., Sharma N; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Bragg DC; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Talkowski ME; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., MacDonald ME; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lee JM; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ozelius LJ; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Department of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA. Electronic address: laurie.ozelius@mgh.harvard.edu., Wheeler VC; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: vwheeler@mgh.harvard.edu.
Source: American journal of human genetics [Am J Hum Genet] 2026 Jan 08; Vol. 113 (1), pp. 83-99. Date of Electronic Publication: 2025 Dec 23.
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2025.12.002