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GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.
Franzka, Patricia; Henze, Henriette; Jung, M Juliane; Schüler, Svenja Caren; Mittag, Sonnhild; Biskup, Karina; Liebmann, Lutz; Kentache, Takfarinas; Morales, José; Martínez, Braulio; Katona, Istvan; Herrmann, Tanja; Huebner, Antje-Kathrin; Hennings, J Christopher; Groth, Susann; Gresing, Lennart; Horstkorte, Rüdiger; Marquardt, Thorsten; Weis, Joachim; Kaether, Christoph; Mutchinick, Osvaldo M; Ori, Alessandro; Huber, Otmar; Blanchard, Véronique; von Maltzahn, Julia; Hübner, Christian A.
Affiliation
  • Franzka P; Institute of Human Genetics, University Hospital Jena, Friedrich Schiller University, Jena, Germany.
  • Henze H; Leibniz-Institute on Aging - Fritz-Lipmann-Institute, Jena, Germany.
  • Jung MJ; Leibniz-Institute on Aging - Fritz-Lipmann-Institute, Jena, Germany.
  • Schüler SC; Leibniz-Institute on Aging - Fritz-Lipmann-Institute, Jena, Germany.
  • Mittag S; Department of Biochemistry II, University Hospital Jena, Friedrich Schiller University, Jena, Germany.
  • Biskup K; Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Laboratory Medicine, Clinical Chemistry and Pathobiochemistry, Berlin, Germany.
  • Liebmann L; Institute of Human Genetics, University Hospital Jena, Friedrich Schiller University, Jena, Germany.
  • Kentache T; Welbio and de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.
  • Morales J; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
  • Martínez B; Department of Pathology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
  • Katona I; Institut für Neuropathologie, Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany.
  • Herrmann T; Institute of Human Genetics, University Hospital Jena, Friedrich Schiller University, Jena, Germany.
  • Huebner AK; Institute of Human Genetics, University Hospital Jena, Friedrich Schiller University, Jena, Germany.
  • Hennings JC; Institute of Human Genetics, University Hospital Jena, Friedrich Schiller University, Jena, Germany.
  • Groth S; Leibniz-Institute on Aging - Fritz-Lipmann-Institute, Jena, Germany.
  • Gresing L; Institute of Human Genetics, University Hospital Jena, Friedrich Schiller University, Jena, Germany.
  • Horstkorte R; Institut für Physiologische Chemie, Martin-Luther-Universität Halle-Wittenberg, Halle, Germany.
  • Marquardt T; University Hospital Muenster, Department of Pediatrics, Muenster, Germany.
  • Weis J; Institut für Neuropathologie, Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany.
  • Kaether C; Leibniz-Institute on Aging - Fritz-Lipmann-Institute, Jena, Germany.
  • Mutchinick OM; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
  • Ori A; Leibniz-Institute on Aging - Fritz-Lipmann-Institute, Jena, Germany.
  • Huber O; Department of Biochemistry II, University Hospital Jena, Friedrich Schiller University, Jena, Germany.
  • Blanchard V; Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Laboratory Medicine, Clinical Chemistry and Pathobiochemistry, Berlin, Germany.
  • von Maltzahn J; Leibniz-Institute on Aging - Fritz-Lipmann-Institute, Jena, Germany.
  • Hübner CA; Institute of Human Genetics, University Hospital Jena, Friedrich Schiller University, Jena, Germany.
J Clin Invest ; 131(9)2021 05 03.
Article in En | MEDLINE | ID: mdl-33755596
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Full text: 1 Database: MEDLINE Main subject: Muscle, Skeletal / Dystroglycans / Guanosine Diphosphate Mannose / Neuromuscular Diseases / Nucleotidyltransferases Limits: Animals / Humans Language: En Year: 2021 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Muscle, Skeletal / Dystroglycans / Guanosine Diphosphate Mannose / Neuromuscular Diseases / Nucleotidyltransferases Limits: Animals / Humans Language: En Year: 2021 Type: Article