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Open Access
Peer-reviewed
Research Article
Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions
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Zuchra Zakirova,
Roles Conceptualization, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing
Affiliation Department of Neurology, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, United States of America
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Tomas Fanutza,
Roles Formal analysis, Investigation, Validation, Writing – original draft
Affiliation Department of Neurology, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, United States of America
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Justine Bonet,
Roles Investigation, Validation
Affiliation Department of Neurology, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, United States of America
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Ben Readhead,
Roles Data curation, Formal analysis, Investigation, Validation
Affiliation Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, United States of America
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Weijia Zhang,
Roles Formal analysis, Investigation
Affiliation Bioinformatics Laboratory, Department of Medicine, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, United States of America
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Zhengzi Yi,
Roles Formal analysis, Investigation
Affiliation Bioinformatics Laboratory, Department of Medicine, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, United States of America
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Genevieve Beauvais,
Roles Conceptualization
Affiliation Raymond G. Perelman Center for Cellular & Molecular Therapeutics, The Children’s Hospital of Philadelphia, Philadelphia, PA, United States of America
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Thomas P. Zwaka,
Roles Conceptualization, Funding acquisition, Writing – review & editing
Affiliation Black Family Stem Cell Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America
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Laurie J. Ozelius,
Roles Conceptualization, Funding acquisition, Writing – original draft, Writing – review & editing
Affiliations Department of Neurology, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, United States of America, Department of Neurology, Harvard Medical School, Boston, MA, United States of America
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Robert D. Blitzer,
Roles Formal analysis, Resources, Supervision, Visualization, Writing – original draft, Writing – review & editing
Affiliation Departments of Pharmacological Sciences and Psychiatry, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, United States of America
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Pedro Gonzalez-Alegre ,
Roles Conceptualization, Funding acquisition, Writing – original draft, Writing – review & editing
* E-mail: michelle.ehrlich@mssm.edu (MEE); pedro.gonzalez-alegre@uphs.upenn.edu (PGA)
Affiliations Raymond G. Perelman Center for Cellular & Molecular Therapeutics, The Children’s Hospital of Philadelphia, Philadelphia, PA, United States of America, Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States of America
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Michelle E. Ehrlich
Roles Conceptualization, Funding acquisition, Resources, Supervision, Writing – original draft, Writing – review & editing
* E-mail: michelle.ehrlich@mssm.edu (MEE); pedro.gonzalez-alegre@uphs.upenn.edu (PGA)
Affiliations Department of Neurology, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, United States of America, Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, United States of America
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Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions
- Zuchra Zakirova,
- Tomas Fanutza,
- Justine Bonet,
- Ben Readhead,
- Weijia Zhang,
- Zhengzi Yi,
- Genevieve Beauvais,
- Thomas P. Zwaka,
- Laurie J. Ozelius,
- Robert D. Blitzer
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- Published: January 24, 2018
- https://doi.org/10.1371/journal.pgen.1007169