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Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.

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Title: Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Authors: Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Technical University of Munich, Munich, Germany.; School of Medicine, Technical University of Munich, Institute of Human Genetics, Munich, Germany., Kumar KR; Molecular Medicine Laboratory and Neurology Department, Concord Clinical School, Concord Repatriation General Hospital, The University of Sydney, Sydney, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Reining S; Department of General Paediatrics, University of Münster, Münster, Germany., Reunert J; Department of General Paediatrics, University of Münster, Münster, Germany., Tchan M; Department of Genetic Medicine, Westmead Hospital, Westmead, New South Wales, Australia.; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia., Riley LG; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, New South Wales, Australia., Drew AP; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Adam RJ; Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Centre for Clinical Research, The University of Queensland, Brisbane, Queensland, Australia., Berutti R; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Technical University of Munich, Munich, Germany.; School of Medicine, Technical University of Munich, Institute of Human Genetics, Munich, Germany., Biskup S; CeGaT GmbH und Praxis für Humangenetik Tübingen, Tübingen, Germany., Derive N; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Bardakjian T; Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania, USA., Gonzalez-Alegre P; Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania, USA., Keller Sarmiento IJ; Ken and Ruth Davee Department of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA., Mencacci NE; Ken and Ruth Davee Department of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA., Lubbe SJ; Ken and Ruth Davee Department of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA., Kurian MA; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom., Clot F; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; AP-HP Sorbonne Université, Département de Génétique, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris, France., Méneret A; Sorbonne Université, Paris Brain Institute-ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, DMU Neurosciences, Paris, France., de Sainte Agathe JM; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; AP-HP Sorbonne Université, Laboratoire de Médecine Génomique, Hôpital Pitié-Salpêtrière, Paris, France., Fung VSC; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, New South Wales, Australia.; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia., Vidailhet M; Sorbonne Université, Paris Brain Institute-ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, DMU Neurosciences, Paris, France., Baumann M; Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria., Marquardt T; Department of General Paediatrics, University of Münster, Münster, Germany., Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Technical University of Munich, Munich, Germany.; School of Medicine, Technical University of Munich, Institute of Human Genetics, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany., Boesch S; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Jan; Vol. 37 (1), pp. 137-147. Date of Electronic Publication: 2021 Oct 01.
Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
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  Data: <searchLink fieldCode="AU" term="%22Zech+M%22">Zech M</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Technical University of Munich, Munich, Germany.; School of Medicine, Technical University of Munich, Institute of Human Genetics, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Kumar+KR%22">Kumar KR</searchLink>; Molecular Medicine Laboratory and Neurology Department, Concord Clinical School, Concord Repatriation General Hospital, The University of Sydney, Sydney, New South Wales, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Reining+S%22">Reining S</searchLink>; Department of General Paediatrics, University of Münster, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Reunert+J%22">Reunert J</searchLink>; Department of General Paediatrics, University of Münster, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Tchan+M%22">Tchan M</searchLink>; Department of Genetic Medicine, Westmead Hospital, Westmead, New South Wales, Australia.; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Riley+LG%22">Riley LG</searchLink>; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Drew+AP%22">Drew AP</searchLink>; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Adam+RJ%22">Adam RJ</searchLink>; Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Centre for Clinical Research, The University of Queensland, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Berutti+R%22">Berutti R</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Technical University of Munich, Munich, Germany.; School of Medicine, Technical University of Munich, Institute of Human Genetics, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Biskup+S%22">Biskup S</searchLink>; CeGaT GmbH und Praxis für Humangenetik Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Derive+N%22">Derive N</searchLink>; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bakhtiari+S%22">Bakhtiari S</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Jin+SC%22">Jin SC</searchLink>; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Kruer+MC%22">Kruer MC</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Bardakjian+T%22">Bardakjian T</searchLink>; Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Gonzalez-Alegre+P%22">Gonzalez-Alegre P</searchLink>; Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Keller+Sarmiento+IJ%22">Keller Sarmiento IJ</searchLink>; Ken and Ruth Davee Department of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Mencacci+NE%22">Mencacci NE</searchLink>; Ken and Ruth Davee Department of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Lubbe+SJ%22">Lubbe SJ</searchLink>; Ken and Ruth Davee Department of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Kurian+MA%22">Kurian MA</searchLink>; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Clot+F%22">Clot F</searchLink>; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; AP-HP Sorbonne Université, Département de Génétique, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Méneret+A%22">Méneret A</searchLink>; Sorbonne Université, Paris Brain Institute-ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, DMU Neurosciences, Paris, France.<br /><searchLink fieldCode="AU" term="%22de+Sainte+Agathe+JM%22">de Sainte Agathe JM</searchLink>; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; AP-HP Sorbonne Université, Laboratoire de Médecine Génomique, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Fung+VSC%22">Fung VSC</searchLink>; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, New South Wales, Australia.; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Vidailhet+M%22">Vidailhet M</searchLink>; Sorbonne Université, Paris Brain Institute-ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, DMU Neurosciences, Paris, France.<br /><searchLink fieldCode="AU" term="%22Baumann+M%22">Baumann M</searchLink>; Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Marquardt+T%22">Marquardt T</searchLink>; Department of General Paediatrics, University of Münster, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Winkelmann+J%22">Winkelmann J</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Technical University of Munich, Munich, Germany.; School of Medicine, Technical University of Munich, Institute of Human Genetics, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Boesch+S%22">Boesch S</searchLink>; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
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