Works matching IS 22143599 AND DT 2022 AND VI 9

Results: 72
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    Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 713, doi. 10.3233/JND-210784
    By:
    • Duong, Tina;
    • Kishnani, Priya S.;
    • An Haack, Kristina;
    • Foster, Meredith C.;
    • Gibson, James B.;
    • Wilson, Catherine;
    • Hahn, Si Houn;
    • Hillman, Richard;
    • Kronn, David;
    • Leslie, Nancy D.;
    • Peña, Loren D.M.;
    • Sparks, Susan E.;
    • Stockton, David W.;
    • Tanpaiboon, Pranoot;
    • Day, John W.
    Publication type:
    Article
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    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
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    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
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    A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 457, doi. 10.3233/JND-220802
    By:
    • Montano, Vincenzo;
    • Mancuso, Michelangelo;
    • Simoncini, Costanza;
    • Torri, Francesca;
    • Chico, Lucia;
    • Ali, Greta;
    • Rocchi, Anna;
    • Baldinotti, Fulvia;
    • Caligo, Maria Adelaide;
    • Lattanzi, Giovanna;
    • Mattioli, Elisabetta;
    • Cenacchi, Giovanna;
    • Barison, Andrea;
    • Siciliano, Gabriele;
    • Ricci, Giulia
    Publication type:
    Article
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    Thymic Lesions in Myasthenia Gravis: A Clinicopathological Study from India.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 411, doi. 10.3233/JND-210785
    By:
    • Nishadham, Vikas;
    • Bardhan, Mainak;
    • Polavarapu, Kiran;
    • Vengalil, Seena;
    • Nashi, Saraswati;
    • Menon, Deepak;
    • Ganaraja, Valakunja Harikrishna;
    • Preethish-Kumar, Veeramani;
    • Valasani, Ravi Kiran;
    • Huddar, Akshata;
    • Unnikrishnan, Gopi Krishnan;
    • Thomas, Abel;
    • Saravanan, Akshaya;
    • Kulanthaivelu, Karthik;
    • Nalini, Atchayaram;
    • Nandeesh, Bevinahalli Nanjegowda
    Publication type:
    Article
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    Step Activity Monitoring in Boys with Duchenne Muscular Dystrophy and its Correlation with Magnetic Resonance Measures and Functional Performance.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 423, doi. 10.3233/JND-210746
    By:
    • Nair, Kavya S.;
    • Lott, Donovan J.;
    • Forbes, Sean C.;
    • Barnard, Alison M.;
    • Willcocks, Rebecca J.;
    • Senesac, Claudia R.;
    • Daniels, Michael J.;
    • Harrington, Ann T.;
    • Tennekoon, Gihan I.;
    • Zilke, Kirsten;
    • Finanger, Erika L.;
    • Finkel, Richard S.;
    • Rooney, William D.;
    • Walter, Glenn A.;
    • Vandenborne, Krista
    Publication type:
    Article
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    Adult North Star Network (ANSN): Consensus Document for Therapists Working with Adults with Duchenne Muscular Dystrophy (DMD) – Therapy Guidelines.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 365, doi. 10.3233/JND-210707
    By:
    • Narayan, S.;
    • Pietrusz, A.;
    • Allen, J.;
    • DiMarco, M.;
    • Docherty, K.;
    • Emery, N.;
    • Ennis, M.;
    • Flesher, R.;
    • Foo, W.;
    • Freebody, J.;
    • Gallagher, E.;
    • Grose, N.;
    • Harris, D.;
    • Hewamadduma, C.;
    • Holmes, S.;
    • James, M.K.;
    • Maidment, L.;
    • Mayhew, A.;
    • Moat, D.;
    • Moorcroft, N.
    Publication type:
    Article
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