Works matching IS 22143599 AND DT 2023 AND VI 10

Results: 98
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    SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 6, p. 1055, doi. 10.3233/JND-221673
    By:
    • Bouman, Karlijn;
    • Groothuis, Jan T.;
    • Doorduin, Jonne;
    • van Alfen, Nens;
    • Udink ten Cate, Floris E.A.;
    • van den Heuvel, Frederik M.A.;
    • Nijveldt, Robin;
    • Kamsteeg, Erik-Jan;
    • Dittrich, Anne T.M.;
    • Draaisma, Jos M.T.;
    • Janssen, Mirian C.H.;
    • van Engelen, Baziel G.M.;
    • Erasmus, Corrie E.;
    • Voermans, Nicol C.
    Publication type:
    Article
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    Identifying Biomarkers of Spinal Muscular Atrophy for Further Development.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 937, doi. 10.3233/JND-230054
    By:
    • Glascock, Jacqueline;
    • Darras, Basil T.;
    • Crawford, Thomas O.;
    • Sumner, Charlotte J.;
    • Kolb, Stephen J.;
    • DiDonato, Christine;
    • Elsheikh, Bakri;
    • Howell, Kelly;
    • Farwell, Wildon;
    • Valente, Marta;
    • Petrillo, Marco;
    • Tingey, Jessica;
    • Jarecki, Jill
    Publication type:
    Article
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    Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 915, doi. 10.3233/JND-230046
    By:
    • Öz Tunçer, Gökçen;
    • Sanri, Aslıhan;
    • Aydin, Seren;
    • Hergüner, Özlem M.;
    • Özgün, Nezir;
    • Kömür, Mustafa;
    • İçağasioğlu, Dilara F.;
    • Toker, Rabia Tütüncü;
    • Yilmaz, Sanem;
    • Arslan, Elif Acar;
    • Güngör, Mesut;
    • Kutluk, Gültekin;
    • Erol, İlknur;
    • Mert, Gülen Gül;
    • Polat, Burçin Gönüllü;
    • Aksoy, Ayşe
    Publication type:
    Article
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    Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 869, doi. 10.3233/JND-230023
    By:
    • Keene, Kevin R.;
    • Notting, Irene C.;
    • Verschuuren, Jan J.G.M.;
    • Voermans, N.;
    • de Keizer, Ronald. O.B.;
    • Beenakker, Jan-Willem M.;
    • Tannemaat, Martijn R.;
    • Kan, Hermien E.
    Publication type:
    Article
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    Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 835, doi. 10.3233/JND-221668
    By:
    • Kleinle, Stephanie;
    • Scholz, Veronika;
    • Benet-Pagés, Anna;
    • Wohlfrom, Tobias;
    • Gehling, Stefanie;
    • Scharf, Florentine;
    • Rost, Simone;
    • Prott, Eva-Christina;
    • Grinzinger, Susanne;
    • Hotter, Anna;
    • Haug, Verena;
    • Niemeier, Sabine;
    • Wiethoff-Ubrig, Lucia;
    • Hagenacker, Tim;
    • Goldhahn, Klaus;
    • von Moers, Arpad;
    • Walter, Maggie C.;
    • Reilich, Peter;
    • Eggermann, Katja;
    • Kraft, Florian
    Publication type:
    Article
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    Inspiratory Muscle Training in Nemaline Myopathy.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 825, doi. 10.3233/JND-221665
    By:
    • van Kleef, Esmee S.B.;
    • Langer, Daniel;
    • van Engelen, Baziel G.M.;
    • Ottenheijm, Coen A.C.;
    • Voermans, Nicol C.;
    • Doorduin, Jonne
    Publication type:
    Article
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    Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 541, doi. 10.3233/JND-230018
    By:
    • van den Bersselaar, Luuk R.;
    • van Alfen, Nens;
    • Kruijt, Nick;
    • Kamsteeg, Erik-Jan;
    • Fernandez-Garcia, Miguel A.;
    • Treves, Susan;
    • Riazi, Sheila;
    • Yang, Chu-Ya;
    • Malagon, Ignacio;
    • van Eijk, Lucas T.;
    • van Engelen, Baziel G.M.;
    • Scheffer, Gert-Jan;
    • Jungbluth, Heinz;
    • Snoeck, Marc M.J.;
    • Voermans, Nicol C.
    Publication type:
    Article
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    Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 555, doi. 10.3233/JND-230029
    By:
    • Suzuki, Naoki;
    • Mori-Yoshimura, Madoka;
    • Katsuno, Masahisa;
    • Takahashi, Masanori P.;
    • Yamashita, Satoshi;
    • Oya, Yasushi;
    • Hashizume, Atsushi;
    • Yamada, Shinichiro;
    • Nakamori, Masayuki;
    • Izumi, Rumiko;
    • Kato, Masaaki;
    • Warita, Hitoshi;
    • Tateyama, Maki;
    • Kuroda, Hiroshi;
    • Asada, Ryuta;
    • Yamaguchi, Takuhiro;
    • Nishino, Ichizo;
    • Aoki, Masashi
    Publication type:
    Article
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    Development of an International SMA Bulbar Assessment for Inter-professional Administration.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 639, doi. 10.3233/JND-221672
    By:
    • Dunaway Young, Sally;
    • McGrattan, Katlyn;
    • Johnson, Emily;
    • van der Heul, Marise;
    • Duong, Tina;
    • Bakke, Merete;
    • Werlauff, Ulla;
    • Pasternak, Amy;
    • Cattaneo, Camilla;
    • Hoffman, Katie;
    • Fanelli, Lavinia;
    • Breaks, Anne;
    • Allison, Kristen;
    • Baranello, Giovanni;
    • Finkel, Richard;
    • Coratti, Giorgia;
    • Lofra, Robert Muni
    Publication type:
    Article
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    Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 653, doi. 10.3233/JND-230012
    By:
    • Trifunov, Selena;
    • Natera-de Benito, Daniel;
    • Carrera-García, Laura;
    • Codina, Anna;
    • Expósito-Escudero, Jesica;
    • Ortez, Carlos;
    • Medina, Julita;
    • Torres Alcala, Soraya;
    • Bernal, Sara;
    • Alias, Laura;
    • Badosa, Carmen;
    • Balsells, Sol;
    • Alcolea, Daniel;
    • Nascimento, Andres;
    • Jimenez-Mallebrera, Cecilia
    Publication type:
    Article