Works matching IS 22143599 AND DT 2022 AND VI 9 AND IP 4


Results: 10
    1

    GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 533, doi. 10.3233/JND-220822
    By:
    • Mensch, Alexander;
    • Cordts, Isabell;
    • Scholle, Leila;
    • Joshi, Pushpa Raj;
    • Kleeberg, Kathleen;
    • Emmer, Alexander;
    • Beck-Woedl, Stefanie;
    • Park, Joohyun;
    • Haack, Tobias B.;
    • Stoltenburg-Didinger, Gisela;
    • Zierz, Stephan;
    • Deschauer, Marcus
    Publication type:
    Article
    2
    3
    4
    5
    6

    INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 503, doi. 10.3233/JND-210781
    By:
    • Dowling, James J.;
    • Müller-Felber, Wolfgang;
    • Smith, Barbara K.;
    • Bönnemann, Carsten G.;
    • Kuntz, Nancy L.;
    • Muntoni, Francesco;
    • Servais, Laurent;
    • Alfano, Lindsay N.;
    • Beggs, Alan H.;
    • Bilder, Deborah A.;
    • Blaschek, Astrid;
    • Duong, Tina;
    • Graham, Robert J.;
    • Jain, Minal;
    • Lawlor, Michael W.;
    • Lee, Jun;
    • Coats, Julie;
    • Lilien, Charlotte;
    • Lowes, Linda P.;
    • MacBean, Victoria
    Publication type:
    Article
    7
    8
    9
    10