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Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.

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Title: Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.
Authors: Turner J; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Bruels CC; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Daugherty AL; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Estrella EA; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Stafki S; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Syeda SB; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA., Littel HR; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Pais L; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Ganesh VS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Lidov HGW; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Paine SML; Department of Clinical Pathology, Nottingham University Hospitals, Nottingham, UK., Maddison P; Department of Neurology, Queen's Medical Centre, Nottingham University Hospitals NHS Trust, Nottingham, UK., Harrison RE; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Ghosh PS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Pacak CA; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Kunkel LM; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Draper I; Molecular Cardiology Research Institute, Tufts Medical Center, Boston, Massachusetts, USA., Topf A; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Institute for Translational Neuroscience, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
Source: Muscle & nerve [Muscle Nerve] 2024 Oct; Vol. 70 (4), pp. 843-850. Date of Electronic Publication: 2024 Jul 28.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Turner+J%22">Turner J</searchLink>; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Bruels+CC%22">Bruels CC</searchLink>; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Daugherty+AL%22">Daugherty AL</searchLink>; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Estrella+EA%22">Estrella EA</searchLink>; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Stafki+S%22">Stafki S</searchLink>; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Syeda+SB%22">Syeda SB</searchLink>; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA.<br /><searchLink fieldCode="AU" term="%22Littel+HR%22">Littel HR</searchLink>; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Pais+L%22">Pais L</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Ganesh+VS%22">Ganesh VS</searchLink>; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Lidov+HGW%22">Lidov HGW</searchLink>; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Paine+SML%22">Paine SML</searchLink>; Department of Clinical Pathology, Nottingham University Hospitals, Nottingham, UK.<br /><searchLink fieldCode="AU" term="%22Maddison+P%22">Maddison P</searchLink>; Department of Neurology, Queen's Medical Centre, Nottingham University Hospitals NHS Trust, Nottingham, UK.<br /><searchLink fieldCode="AU" term="%22Harrison+RE%22">Harrison RE</searchLink>; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.<br /><searchLink fieldCode="AU" term="%22Straub+V%22">Straub V</searchLink>; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Ghosh+PS%22">Ghosh PS</searchLink>; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Pacak+CA%22">Pacak CA</searchLink>; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Kunkel+LM%22">Kunkel LM</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Draper+I%22">Draper I</searchLink>; Molecular Cardiology Research Institute, Tufts Medical Center, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Topf+A%22">Topf A</searchLink>; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Kang+PB%22">Kang PB</searchLink>; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Institute for Translational Neuroscience, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
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  Data: <searchLink fieldCode="JN" term="%227803146%22">Muscle & nerve</searchLink> [Muscle Nerve] 2024 Oct; Vol. 70 (4), pp. 843-850. <i>Date of Electronic Publication: </i>2024 Jul 28.
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