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Open Access
Peer-reviewed
Research Article
Polygenic associations with clinical and neuropathological trait heterogeneity across TDP-43 proteinopathies
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Barbara E. Spencer,
Roles Conceptualization, Funding acquisition, Investigation, Methodology, Visualization, Writing – original draft, Writing – review & editing
Affiliation Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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David J. Irwin,
Roles Funding acquisition, Investigation, Project administration, Supervision, Writing – review & editing
Affiliation Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Vivianna M. Van Deerlin,
Roles Writing – review & editing
Affiliation Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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EunRan Suh,
Roles Writing – review & editing
Affiliation Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Edward B. Lee,
Roles Methodology, Writing – review & editing
Affiliation Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Lauren Elman,
Roles Investigation, Writing – review & editing
Affiliation Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Colin C. Quinn,
Roles Investigation, Writing – review & editing
Affiliation Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Defne Amado,
Roles Investigation, Writing – review & editing
Affiliation Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Michael Baer,
Roles Investigation, Writing – review & editing
Affiliation Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Murray Grossman ,
Roles Investigation, Writing – review & editing
¶† Deceased
Affiliation Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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David A. Wolk,
Roles Conceptualization, Writing – review & editing
Affiliation Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Corey T. McMillan
Roles Conceptualization, Funding acquisition, Methodology, Project administration, Supervision, Visualization, Writing – original draft, Writing – review & editing
* E-mail: cmcmilla@pennmedicine.upenn.edu
Affiliation Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Polygenic associations with clinical and neuropathological trait heterogeneity across TDP-43 proteinopathies
- Barbara E. Spencer,
- David J. Irwin,
- Vivianna M. Van Deerlin,
- EunRan Suh,
- Edward B. Lee,
- Lauren Elman,
- Colin C. Quinn,
- Defne Amado,
- Michael Baer,
- Murray Grossman
- Published: December 30, 2025
- https://doi.org/10.1371/journal.pone.0338398