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Research Article

Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis

  • Bruno A. Benitez,

    Affiliation: Department of Psychiatry, Washington University, St. Louis, Missouri, United States of America

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  • David Alvarado,

    Affiliation: Department of Pediatrics, Washington University, St. Louis, Missouri, United States of America

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  • Yefei Cai,

    Affiliation: Department of Psychiatry, Washington University, St. Louis, Missouri, United States of America

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  • Kevin Mayo,

    Affiliation: Department of Psychiatry, Washington University, St. Louis, Missouri, United States of America

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  • Sumitra Chakraverty,

    Affiliation: Department of Psychiatry, Washington University, St. Louis, Missouri, United States of America

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  • Joanne Norton,

    Affiliation: Department of Psychiatry, Washington University, St. Louis, Missouri, United States of America

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  • John C. Morris,

    Affiliation: Department of Neurology, Washington University, St. Louis, Missouri, United States of America

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  • Mark S. Sands,

    Affiliations: Department of Pediatrics, Washington University, St. Louis, Missouri, United States of America, Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University, St. Louis, Missouri, United States of America

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  • Alison Goate,

    Affiliations: Department of Psychiatry, Washington University, St. Louis, Missouri, United States of America, Department of Neurology, Washington University, St. Louis, Missouri, United States of America, Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University, St. Louis, Missouri, United States of America, Department of Genetics, Washington University, St. Louis, Missouri, United States of America

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  • Carlos Cruchaga mail

    cruchagac@psychiatry.wustl.edu

    Affiliations: Department of Psychiatry, Washington University, St. Louis, Missouri, United States of America, Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University, St. Louis, Missouri, United States of America

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  • Published: November 04, 2011
  • DOI: 10.1371/journal.pone.0026741

About the Authors

Bruno A. Benitez, Yefei Cai, Kevin Mayo, Sumitra Chakraverty, Joanne Norton, Alison Goate, Carlos Cruchaga
Department of Psychiatry, Washington University, St. Louis, Missouri, United States of America
David Alvarado, Mark S. Sands
Department of Pediatrics, Washington University, St. Louis, Missouri, United States of America
John C. Morris, Alison Goate
Department of Neurology, Washington University, St. Louis, Missouri, United States of America
Mark S. Sands, Alison Goate, Carlos Cruchaga
Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University, St. Louis, Missouri, United States of America
Alison Goate
Department of Genetics, Washington University, St. Louis, Missouri, United States of America

Corresponding Author

Email: cruchagac@psychiatry.wustl.edu

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: BAB AG CC. Performed the experiments: BAB KM SC CC. Analyzed the data: BAB DA YC CC. Contributed reagents/materials/analysis tools: JN MS JCM. Wrote the paper: BAB AG CC.