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PolyQ Repeat Expansions in ATXN2 Associated with ALS Are CAA Interrupted Repeats

  • Zhenming Yu ,

    Contributed equally to this work with: Zhenming Yu, Yongqing Zhu, Alice S. Chen-Plotkin

    Affiliation Department of Biology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

  • Yongqing Zhu ,

    Contributed equally to this work with: Zhenming Yu, Yongqing Zhu, Alice S. Chen-Plotkin

    Affiliation Department of Biology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

  • Alice S. Chen-Plotkin ,

    Contributed equally to this work with: Zhenming Yu, Yongqing Zhu, Alice S. Chen-Plotkin

    Affiliation Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

  • Dana Clay-Falcone,

    Affiliation Center for Neurodegenerative Disease Research, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

  • Leo McCluskey,

    Affiliation Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

  • Lauren Elman,

    Affiliation Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

  • Robert G. Kalb,

    Affiliations Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

  • John Q. Trojanowski,

    Affiliations Center for Neurodegenerative Disease Research, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

  • Virginia M.-Y. Lee,

    Affiliations Center for Neurodegenerative Disease Research, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

  • Vivianna M. Van Deerlin,

    Affiliations Center for Neurodegenerative Disease Research, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

  • Aaron D. Gitler ,

    gitler@mail.med.upenn.edu (ADG); nbonini@sas.upenn.edu (NMB)

    Affiliation Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

  • Nancy M. Bonini

    gitler@mail.med.upenn.edu (ADG); nbonini@sas.upenn.edu (NMB)

    Affiliations Department of Biology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America, Howard Hughes Medical Institute, Philadelphia, Pennsylvania, United States of America

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