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Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.
Zakirova, Zuchra; Fanutza, Tomas; Bonet, Justine; Readhead, Ben; Zhang, Weijia; Yi, Zhengzi; Beauvais, Genevieve; Zwaka, Thomas P; Ozelius, Laurie J; Blitzer, Robert D; Gonzalez-Alegre, Pedro; Ehrlich, Michelle E.
Affiliation
  • Zakirova Z; Department of Neurology, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, United States of America.
  • Fanutza T; Department of Neurology, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, United States of America.
  • Bonet J; Department of Neurology, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, United States of America.
  • Readhead B; 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.
  • Zhang W; Bioinformatics Laboratory, Department of Medicine, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, United States of America.
  • Yi Z; Bioinformatics Laboratory, Department of Medicine, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl, New York, NY, United States of America.
  • Beauvais G; Raymond G. Perelman Center for Cellular & Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
  • Zwaka TP; Black Family Stem Cell Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America.
  • Ozelius LJ; Department of Neurology, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, United States of America.
  • Blitzer RD; Department of Neurology, Harvard Medical School, Boston, MA, United States of America.
  • Gonzalez-Alegre P; 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.
  • Ehrlich ME; Raymond G. Perelman Center for Cellular & Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
PLoS Genet ; 14(1): e1007169, 2018 01.
Article in En | MEDLINE | ID: mdl-29364887
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / DNA-Binding Proteins / Dystonia / Apoptosis Regulatory Proteins / Mutation / Nerve Net / Neurons Limits: Animals / Humans Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2018 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / DNA-Binding Proteins / Dystonia / Apoptosis Regulatory Proteins / Mutation / Nerve Net / Neurons Limits: Animals / Humans Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2018 Type: Article Affiliation country: United States