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Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
Beijer, Danique; Kim, Hong Joo; Guo, Lin; O'Donovan, Kevin; Mademan, Inès; Deconinck, Tine; Van Schil, Kristof; Fare, Charlotte M; Drake, Lauren E; Ford, Alice F; Kochanski, Andrzej; Kabzinska, Dagmara; Dubuisson, Nicolas; Van den Bergh, Peter; Voermans, Nicol C; Lemmers, Richard Jlf; van der Maarel, Silvère M; Bonner, Devon; Sampson, Jacinda B; Wheeler, Matthew T; Mehrabyan, Anahit; Palmer, Steven; De Jonghe, Peter; Shorter, James; Taylor, J Paul; Baets, Jonathan.
Afiliação
  • Beijer D; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.
  • Kim HJ; Laboratory for Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, Belgium.
  • Guo L; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
  • O'Donovan K; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Mademan I; Department of Biochemistry and Molecular Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • Deconinck T; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
  • Van Schil K; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.
  • Fare CM; Laboratory for Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, Belgium.
  • Drake LE; Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium.
  • Ford AF; Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium.
  • Kochanski A; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Kabzinska D; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Dubuisson N; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Van den Bergh P; Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
  • Voermans NC; Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
  • Lemmers RJ; Neuromuscular Reference Centre, University Hospitals St-Luc, University of Louvain, Brussels, Belgium.
  • van der Maarel SM; Neuromuscular Reference Centre, University Hospitals St-Luc, University of Louvain, Brussels, Belgium.
  • Bonner D; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.
  • Sampson JB; Human Genetics Department, Leiden University Medical Center, Netherlands.
  • Wheeler MT; Human Genetics Department, Leiden University Medical Center, Netherlands.
  • Mehrabyan A; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.
  • Palmer S; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.
  • De Jonghe P; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.
  • Shorter J; Department of Neurology, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
  • Taylor JP; Department of Neurology, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
  • Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.
JCI Insight ; 6(14)2021 07 22.
Article em En | MEDLINE | ID: mdl-34291734
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Ribonucleoproteína Nuclear Heterogênea A1 / Esclerose Lateral Amiotrófica Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: JCI Insight Ano de publicação: 2021 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Ribonucleoproteína Nuclear Heterogênea A1 / Esclerose Lateral Amiotrófica Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: JCI Insight Ano de publicação: 2021 Tipo de documento: Article País de publicação: Estados Unidos