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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.
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
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  Data: Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
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  Data: <searchLink fieldCode="AU" term="%22Beijer+D%22">Beijer D</searchLink>; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.; Laboratory for Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, Belgium.<br /><searchLink fieldCode="AU" term="%22Kim+HJ%22">Kim HJ</searchLink>; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Guo+L%22">Guo L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22O'Donovan+K%22">O'Donovan K</searchLink>; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Mademan+I%22">Mademan I</searchLink>; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.; Laboratory for Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, Belgium.<br /><searchLink fieldCode="AU" term="%22Deconinck+T%22">Deconinck T</searchLink>; Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Van+Schil+K%22">Van Schil K</searchLink>; Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Fare+CM%22">Fare CM</searchLink>; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Drake+LE%22">Drake LE</searchLink>; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Ford+AF%22">Ford AF</searchLink>; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Kochański+A%22">Kochański A</searchLink>; Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Kabzińska+D%22">Kabzińska D</searchLink>; Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Dubuisson+N%22">Dubuisson N</searchLink>; Neuromuscular Reference Centre, University Hospitals St-Luc, University of Louvain, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Van+den+Bergh+P%22">Van den Bergh P</searchLink>; Neuromuscular Reference Centre, University Hospitals St-Luc, University of Louvain, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Voermans+NC%22">Voermans NC</searchLink>; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Lemmers+RJ%22">Lemmers RJ</searchLink>; Human Genetics Department, Leiden University Medical Center, Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Maarel+SM%22">van der Maarel SM</searchLink>; Human Genetics Department, Leiden University Medical Center, Netherlands.<br /><searchLink fieldCode="AU" term="%22Bonner+D%22">Bonner D</searchLink>; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.<br /><searchLink fieldCode="AU" term="%22Sampson+JB%22">Sampson JB</searchLink>; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.<br /><searchLink fieldCode="AU" term="%22Wheeler+MT%22">Wheeler MT</searchLink>; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.<br /><searchLink fieldCode="AU" term="%22Mehrabyan+A%22">Mehrabyan A</searchLink>; Department of Neurology, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Palmer+S%22">Palmer S</searchLink>; Department of Neurology, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22De+Jonghe+P%22">De Jonghe P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Shorter+J%22">Shorter J</searchLink>; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Taylor+JP%22">Taylor JP</searchLink>; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Baets+J%22">Baets J</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101676073%22">JCI insight</searchLink> [JCI Insight] 2021 Jul 22; Vol. 6 (14). <i>Date of Electronic Publication: </i>2021 Jul 22.
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