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C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy.
Cali, Christopher P; Patino, Maribel; Tai, Yee Kit; Ho, Wan Yun; McLean, Catriona A; Morris, Christopher M; Seeley, William W; Miller, Bruce L; Gaig, Carles; Vonsattel, Jean Paul G; White, Charles L; Roeber, Sigrun; Kretzschmar, Hans; Troncoso, Juan C; Troakes, Claire; Gearing, Marla; Ghetti, Bernardino; Van Deerlin, Vivianna M; Lee, Virginia M-Y; Trojanowski, John Q; Mok, Kin Y; Ling, Helen; Dickson, Dennis W; Schellenberg, Gerard D; Ling, Shuo-Chien; Lee, Edward B.
Affiliation
  • Cali CP; Translational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, University of Pennsylvania, 613A Stellar Chance Laboratories, 422 Curie Blvd, Philadelphia, PA, 19104, USA.
  • Patino M; Translational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, University of Pennsylvania, 613A Stellar Chance Laboratories, 422 Curie Blvd, Philadelphia, PA, 19104, USA.
  • Tai YK; Department of Physiology, National University of Singapore, Singapore, Singapore.
  • Ho WY; Department of Physiology, National University of Singapore, Singapore, Singapore.
  • McLean CA; Department of Anatomical Pathology, Alfred Health and Victorian Brain Bank, Florey Neurosciences, Parkville, VIC, Australia.
  • Morris CM; Newcastle Brain Tissue Resource, Edwardson Building, Newcastle University, Newcastle upon Tyne, NE4 5PL, UK.
  • Seeley WW; Department of Neurology, University of California, San Francisco, CA, USA.
  • Miller BL; Department of Pathology, University of California, San Francisco, CA, USA.
  • Gaig C; Department of Neurology, University of California, San Francisco, CA, USA.
  • Vonsattel JPG; Universitat de Barcelona Hospital Clínic and Banc de Teixits Neurològics, Barcelona, Spain.
  • White CL; Columbia University, NY Brain Bank, New York, NY, USA.
  • Roeber S; University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Kretzschmar H; Institute for Neuropathology and Prion Research and Brain Net Germany, Ludwig-Maximilians-Universität, Munich, Germany.
  • Troncoso JC; Institute for Neuropathology and Prion Research and Brain Net Germany, Ludwig-Maximilians-Universität, Munich, Germany.
  • Troakes C; Department of Pathology, Johns Hopkins University, Baltimore, MD, USA.
  • Gearing M; London Neurodegenerative Diseases Brain Bank, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Ghetti B; Department of Pathology, Emory University, Atlanta, GA, USA.
  • Van Deerlin VM; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
  • Lee VM; Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Trojanowski JQ; Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Mok KY; Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Ling H; Department of Neurodegenerative Disease, University College London Queen Square Institute of Neurology, London, UK.
  • Dickson DW; Division of Life Science, State Key Laboratory of Molecular Neuroscience and Molecular Neuroscience Center, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China.
  • Schellenberg GD; Reta Lila Weston Institute of Neurological Studies, University College London Institute of Neurology, London, UK.
  • Ling SC; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Lee EB; Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Acta Neuropathol ; 138(5): 795-811, 2019 11.
Article in En | MEDLINE | ID: mdl-31327044
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Full text: 1 Database: MEDLINE Main subject: Autophagy / Brain / Neurodegenerative Diseases / C9orf72 Protein Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Acta Neuropathol Year: 2019 Type: Article Affiliation country: United States
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Autophagy / Brain / Neurodegenerative Diseases / C9orf72 Protein Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Acta Neuropathol Year: 2019 Type: Article Affiliation country: United States