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Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene.
Cooper-Knock, Johnathan; Zhang, Sai; Kenna, Kevin P; Moll, Tobias; Franklin, John P; Allen, Samantha; Nezhad, Helia Ghahremani; Iacoangeli, Alfredo; Yacovzada, Nancy Y; Eitan, Chen; Hornstein, Eran; Elhaik, Eran; Celadova, Petra; Bose, Daniel; Farhan, Sali; Fishilevich, Simon; Lancet, Doron; Morrison, Karen E; Shaw, Christopher E; Al-Chalabi, Ammar; Veldink, Jan H; Kirby, Janine; Snyder, Michael P; Shaw, Pamela J.
Afiliação
  • Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK. Electronic address: j.cooper-knock@sheffield.ac.uk.
  • Zhang S; Stanford Center for Genomics and Personalized Medicine, Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Kenna KP; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Moll T; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
  • Franklin JP; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
  • Allen S; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
  • Nezhad HG; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
  • Iacoangeli A; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Yacovzada NY; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
  • Eitan C; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
  • Hornstein E; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
  • Elhaik E; Department of Biology, Lund University, Lund, Sweden.
  • Celadova P; Sheffield Institute for Nucleic Acids, University of Sheffield, Sheffield, UK.
  • Bose D; Sheffield Institute for Nucleic Acids, University of Sheffield, Sheffield, UK.
  • Farhan S; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Fishilevich S; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
  • Lancet D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
  • Morrison KE; Faculty of Medicine, University of Southampton, Southampton, UK.
  • Shaw CE; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Al-Chalabi A; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Kirby J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.
  • Snyder MP; Stanford Center for Genomics and Personalized Medicine, Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK. Electronic address: pamela.shaw@sheffield.ac.uk.
Cell Rep ; 33(9): 108456, 2020 12 01.
Article em En | MEDLINE | ID: mdl-33264630

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Caveolina 1 / Esclerose Lateral Amiotrófica Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Cell Rep Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Caveolina 1 / Esclerose Lateral Amiotrófica Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Cell Rep Ano de publicação: 2020 Tipo de documento: Article