Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
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| Title: | Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation. |
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| Authors: | Beijer D; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.; Laboratory for Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, Belgium., Kim HJ; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Guo L; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Biochemistry and Molecular Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., O'Donovan K; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Mademan I; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.; Laboratory for Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, Belgium., Deconinck T; Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium., Van Schil K; Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium., Fare CM; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Drake LE; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Ford AF; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Kochański A; Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland., Kabzińska D; Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland., Dubuisson N; Neuromuscular Reference Centre, University Hospitals St-Luc, University of Louvain, Brussels, Belgium., Van den Bergh P; Neuromuscular Reference Centre, University Hospitals St-Luc, University of Louvain, Brussels, Belgium., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Lemmers RJ; Human Genetics Department, Leiden University Medical Center, Netherlands., van der Maarel SM; Human Genetics Department, Leiden University Medical Center, Netherlands., Bonner D; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA., Sampson JB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA., Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA., Mehrabyan A; Department of Neurology, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Palmer S; Department of Neurology, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., De Jonghe P; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.; Laboratory for Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Wilrijk, Belgium., Shorter J; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Taylor JP; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland, USA., Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.; Laboratory for Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Wilrijk, Belgium. |
| Source: | JCI insight [JCI Insight] 2021 Jul 22; Vol. 6 (14). Date of Electronic Publication: 2021 Jul 22. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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