A non-synonymous single nucleotide polymorphism in <i>SIRT6</i> predicts neurological severity in Friedreich ataxia.

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第一作者： Layne N,Rodden

第一单位： Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.

作者： Layne N,Rodden ^[1] ; Christian,Rummey ^[2] ; Yi Na,Dong ^[1] ; Sarah,Lagedrost ^[1] ; Sean,Regner ^[1] ; Alicia,Brocht ^[3] ; Khalaf,Bushara ^[4] ; Martin B,Delatycki ^[5] ; Christopher M,Gomez ^[6] ; Katherine,Mathews ^[7] ; Sarah,Murray ^[8] ; Susan,Perlman ^[9] ; Bernard,Ravina ^[10] ; S H,Subramony ^[11] ; George,Wilmot ^[12] ; Theresa,Zesiewicz ^[13] ; Alessandra,Bolotta ^[14] ; Alain,Domissy ^[14] ; Christine,Jespersen ^[14] ; Baohu,Ji ^[14] ; Elisabetta,Soragni ^[14] ; Joel M,Gottesfeld ^[14] ; David R,Lynch ^[1]

作者单位： Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States. ^[1] Clinical Data Science GmbH, Basel, Switzerland. ^[2] University of Rochester, Rochester, NY, United States. ^[3] University of Minnesota, Minneapolis, MN, United States. ^[4] Murdoch Children's Research Institute, Victorian Clinical Genetics Services, Melbourne, VIC, Australia. ^[5] Department of Neurology, The University of Chicago, Chicago, IL, United States. ^[6] Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, United States. ^[7] Department of Pathology, School of Medicine, University of California, San Diego, San Diego, CA, United States. ^[8] Department of Neurology, University of California, Los Angeles, Los Angeles, CA, United States. ^[9] Praxis Precision Medicines, Boston, MA, United States. ^[10] Department of Neurology, University of Florida, College of Medicine, Gainesville, FL, United States. ^[11] Department of Neurology, Emory University School of Medicine, Atlanta, GA, United States. ^[12] Department of Neurology, University of South Florida, Tampa, FL, United States. ^[13] The Scripps Research Institute, La Jolla, CA, United States. ^[14]

关键词 SIRT6 ataxia clinical trial epigenetic mRNA profiling mitochondrion modifier

DOI 10.3389/fmolb.2022.933788

PMID 36133907

发布时间 2022-09-24

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Frontiers in molecular biosciences

2022年9卷

933788页

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A non-synonymous single nucleotide polymorphism in <i>SIRT6</i> predicts neurological severity in Friedreich ataxia.

Frontiers in molecular biosciences

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Frontiers in molecular biosciences

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A non-synonymous single nucleotide polymorphism in <i>SIRT6</i> predicts neurological severity in Friedreich ataxia.

Frontiers in molecular biosciences

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Frontiers in molecular biosciences

相关期刊

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