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Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.

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Title: Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Authors: Harrer P; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Škorvánek M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Kittke V; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Dzinovic I; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Borngräber F; Movement Disorder and Neuromodulation Unit, Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Thomsen M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Mandel V; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Svorenova T; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Ostrozovicova M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Kulcsarova K; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Berutti R; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Busch H; Institute of Experimental Dermatology and Institute of Cardiogenetics, University of Lübeck, Lübeck, Germany., Ott F; Institute of Experimental Dermatology and Institute of Cardiogenetics, University of Lübeck, Lübeck, Germany., Kopajtich R; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Kumar KR; Translational Neurogenomics Group, Molecular Medicine Laboratory and Neurology Department, Concord Clinical School, Concord Repatriation General Hospital, The University of Sydney, Sydney, New South Wales, Australia.; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Mencacci NE; Ken and Ruth Davee Department of Neurology, 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, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK., Di Fonzo A; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Boesch S; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Kühn AA; Movement Disorder and Neuromodulation Unit, Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Blümlein U; Department of Pediatrics, Carl-Thiem-Klinikum Cottbus, Cottbus, Germany., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Haslinger B; Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany., Weise D; Department of Neurology, Asklepios Fachklinikum Stadtroda, Stadtroda, Germany.; Department of Neurology, University of Leipzig, Leipzig, Germany., Jech R; Department of Neurology, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic., Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany., Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Oct; Vol. 38 (10), pp. 1914-1924. Date of Electronic Publication: 2023 Jul 23.
Publication Type: Journal Article; 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: Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
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  Data: <searchLink fieldCode="AU" term="%22Harrer+P%22">Harrer P</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Škorvánek+M%22">Škorvánek M</searchLink>; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.<br /><searchLink fieldCode="AU" term="%22Kittke+V%22">Kittke V</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Dzinovic+I%22">Dzinovic I</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Borngräber+F%22">Borngräber F</searchLink>; Movement Disorder and Neuromodulation Unit, Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Thomsen+M%22">Thomsen M</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Mandel+V%22">Mandel V</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Svorenova+T%22">Svorenova T</searchLink>; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.<br /><searchLink fieldCode="AU" term="%22Ostrozovicova+M%22">Ostrozovicova M</searchLink>; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.<br /><searchLink fieldCode="AU" term="%22Kulcsarova+K%22">Kulcsarova K</searchLink>; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.<br /><searchLink fieldCode="AU" term="%22Berutti+R%22">Berutti R</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Busch+H%22">Busch H</searchLink>; Institute of Experimental Dermatology and Institute of Cardiogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Ott+F%22">Ott F</searchLink>; Institute of Experimental Dermatology and Institute of Cardiogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Kopajtich+R%22">Kopajtich R</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Prokisch+H%22">Prokisch H</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Kumar+KR%22">Kumar KR</searchLink>; Translational Neurogenomics Group, Molecular Medicine Laboratory and Neurology Department, Concord Clinical School, Concord Repatriation General Hospital, The University of Sydney, Sydney, New South Wales, Australia.; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Mencacci+NE%22">Mencacci NE</searchLink>; Ken and Ruth Davee Department of Neurology, 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, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Di+Fonzo+A%22">Di Fonzo A</searchLink>; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Boesch+S%22">Boesch S</searchLink>; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Kühn+AA%22">Kühn AA</searchLink>; Movement Disorder and Neuromodulation Unit, Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Blümlein+U%22">Blümlein U</searchLink>; Department of Pediatrics, Carl-Thiem-Klinikum Cottbus, Cottbus, Germany.<br /><searchLink fieldCode="AU" term="%22Lohmann+K%22">Lohmann K</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Haslinger+B%22">Haslinger B</searchLink>; Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Weise+D%22">Weise D</searchLink>; Department of Neurology, Asklepios Fachklinikum Stadtroda, Stadtroda, Germany.; Department of Neurology, University of Leipzig, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Jech+R%22">Jech R</searchLink>; Department of Neurology, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Winkelmann+J%22">Winkelmann J</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Zech+M%22">Zech M</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
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  Data: <searchLink fieldCode="JN" term="%228610688%22">Movement disorders : official journal of the Movement Disorder Society</searchLink> [Mov Disord] 2023 Oct; Vol. 38 (10), pp. 1914-1924. <i>Date of Electronic Publication: </i>2023 Jul 23.
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