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Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Harrer, Philip; Skorvánek, Matej; Kittke, Volker; Dzinovic, Ivana; Borngräber, Friederike; Thomsen, Mirja; Mandel, Vanessa; Svorenova, Tatiana; Ostrozovicova, Miriam; Kulcsarova, Kristina; Berutti, Riccardo; Busch, Hauke; Ott, Fabian; Kopajtich, Robert; Prokisch, Holger; Kumar, Kishore R; Mencacci, Niccolo E; Kurian, Manju A; Di Fonzo, Alessio; Boesch, Sylvia; Kühn, Andrea A; Blümlein, Ulrike; Lohmann, Katja; Haslinger, Bernhard; Weise, David; Jech, Robert; Winkelmann, Juliane; Zech, Michael.
Affiliation
  • Harrer P; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Skorvánek M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
  • Kittke V; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.
  • Dzinovic I; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Borngräber F; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Thomsen M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
  • Mandel V; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Svorenova T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
  • Ostrozovicova M; Movement Disorder and Neuromodulation Unit, Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Kulcsarova K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
  • Berutti R; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Busch H; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.
  • Ott F; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Kopajtich R; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.
  • Prokisch H; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Kumar KR; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.
  • Mencacci NE; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Kurian MA; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Di Fonzo A; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
  • Boesch S; Institute of Experimental Dermatology and Institute of Cardiogenetics, University of Lübeck, Lübeck, Germany.
  • Kühn AA; Institute of Experimental Dermatology and Institute of Cardiogenetics, University of Lübeck, Lübeck, Germany.
  • Blümlein U; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Lohmann K; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
  • Haslinger B; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Weise D; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
  • Jech R; 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.
  • Winkelmann J; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Zech M; Ken and Ruth Davee Department of Neurology, Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
Mov Disord ; 38(10): 1914-1924, 2023 10.
Article in En | MEDLINE | ID: mdl-37485550
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dystonic Disorders / MicroRNAs / Dystonia / Movement Disorders Type of study: Prognostic_studies Limits: Adolescent / Child / Humans Language: En Journal: Mov Disord Journal subject: NEUROLOGIA Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dystonic Disorders / MicroRNAs / Dystonia / Movement Disorders Type of study: Prognostic_studies Limits: Adolescent / Child / Humans Language: En Journal: Mov Disord Journal subject: NEUROLOGIA Year: 2023 Document type: Article Affiliation country: Country of publication: