Works matching IS 22143599 AND DT 2024 AND VI 11 AND IP 3

Results: 13
    1

    Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 647, doi. 10.3233/JND-230216
    By:
    • Estévez-Arias, Berta;
    • Matalonga, Leslie;
    • Martorell, Loreto;
    • Codina, Anna;
    • Ortez, Carlos;
    • Carrera-García, Laura;
    • Expósito-Escudero, Jessica;
    • Yubero, Delia;
    • Hoenicka, Janet;
    • Jou, Cristina;
    • Palau, Francesc;
    • Beltran, Sergi;
    • Lochmüller, Hanns;
    • Töpf, Ana;
    • Nascimento, Andrés;
    • Natera-de Benito, Daniel
    Publication type:
    Article
    2

    Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 535, doi. 10.3233/JND-230213
    By:
    • Rasing, Nathaniël B.;
    • van de Geest-Buit, Willianne A.;
    • Chan, On Ying A.;
    • Mul, Karlien;
    • Lanser, Anke;
    • van Engelen, Baziel G.M.;
    • Erasmus, Corrie E.;
    • Fischer, Agneta H.;
    • Ingels, Koen J.A.O.;
    • Post, Bart;
    • Siemann, Ietske;
    • Groothuis, Jan T.;
    • Voermans, Nicol C.
    Publication type:
    Article
    3
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    5

    Detection of Autoantibodies Against the Acetylcholine Receptor, Evaluation of Commercially Available Methodologies: Fixed Cell-Based Assay, Radioimmunoprecipitation Assay and Enzyme-Linked Immunosorbent Assay<sup>1</sup>.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 613, doi. 10.3233/JND-230210
    By:
    • Diogenes, Larissa;
    • Dellavance, Alessandra;
    • Baldo, Danielle Cristiane;
    • Gozzi-Silva, Sarah Cristina;
    • Gomes, Kethellen;
    • Prado, Monica Simon;
    • Andrade, Luis Eduardo C.;
    • Keppeke, Gerson Dierley
    Publication type:
    Article
    6
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    10

    Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 665, doi. 10.3233/JND-230211
    By:
    • Wolfe, Amy;
    • Stimpson, Georgia;
    • Ramsey, Danielle;
    • Coratti, Giorgia;
    • Dunaway Young, Sally;
    • Mayhew, Anna;
    • Pane, Marika;
    • Rohwer, Annemarie;
    • Muni Lofra, Robert;
    • Duong, Tina;
    • O'Reilly, Emer;
    • Milev, Evelin;
    • Civitello, Matthew;
    • Sansone, Valeria A.;
    • D'Amico, Adele;
    • Bertini, Enrico;
    • Messina, Sonia;
    • Bruno, Claudio;
    • Albamonte, Emilio;
    • Mazzone, Elena
    Publication type:
    Article
    11

    Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 687, doi. 10.3233/JND-230185
    By:
    • Zaidman, Craig M.;
    • Goedeker, Natalie L.;
    • Aqul, Amal A.;
    • Butterfield, Russell J.;
    • Connolly, Anne M.;
    • Crystal, Ronald G.;
    • Godwin, Kara E.;
    • Hor, Kan N.;
    • Mathews, Katherine D.;
    • Proud, Crystal M.;
    • Kula Smyth, Elizabeth;
    • Veerapandiyan, Aravindhan;
    • Watkins, Paul B.;
    • Mendell, Jerry R.
    Publication type:
    Article
    12
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