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A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia.
Rodden, Layne N; Rummey, Christian; Dong, Yi Na; Lagedrost, Sarah; Regner, Sean; Brocht, Alicia; Bushara, Khalaf; Delatycki, Martin B; Gomez, Christopher M; Mathews, Katherine; Murray, Sarah; Perlman, Susan; Ravina, Bernard; Subramony, S H; Wilmot, George; Zesiewicz, Theresa; Bolotta, Alessandra; Domissy, Alain; Jespersen, Christine; Ji, Baohu; Soragni, Elisabetta; Gottesfeld, Joel M; Lynch, David R.
Afiliação
  • Rodden LN; Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.
  • Rummey C; Clinical Data Science GmbH, Basel, Switzerland.
  • Dong YN; Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.
  • Lagedrost S; Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.
  • Regner S; Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.
  • Brocht A; University of Rochester, Rochester, NY, United States.
  • Bushara K; University of Minnesota, Minneapolis, MN, United States.
  • Delatycki MB; Murdoch Children's Research Institute, Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
  • Gomez CM; Department of Neurology, The University of Chicago, Chicago, IL, United States.
  • Mathews K; Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, United States.
  • Murray S; Department of Pathology, School of Medicine, University of California, San Diego, San Diego, CA, United States.
  • Perlman S; Department of Neurology, University of California, Los Angeles, Los Angeles, CA, United States.
  • Ravina B; Praxis Precision Medicines, Boston, MA, United States.
  • Subramony SH; Department of Neurology, University of Florida, College of Medicine, Gainesville, FL, United States.
  • Wilmot G; Department of Neurology, Emory University School of Medicine, Atlanta, GA, United States.
  • Zesiewicz T; Department of Neurology, University of South Florida, Tampa, FL, United States.
  • Bolotta A; The Scripps Research Institute, La Jolla, CA, United States.
  • Domissy A; The Scripps Research Institute, La Jolla, CA, United States.
  • Jespersen C; The Scripps Research Institute, La Jolla, CA, United States.
  • Ji B; The Scripps Research Institute, La Jolla, CA, United States.
  • Soragni E; The Scripps Research Institute, La Jolla, CA, United States.
  • Gottesfeld JM; The Scripps Research Institute, La Jolla, CA, United States.
  • Lynch DR; Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.
Front Mol Biosci ; 9: 933788, 2022.
Article em En | MEDLINE | ID: mdl-36133907

Texto completo: 1 Bases de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Front Mol Biosci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Bases de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Front Mol Biosci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos