Works matching IS 22143599 AND DT 2024 AND VI 11 AND IP 6

Results: 15
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    A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1300, doi. 10.3233/JND-230196
    By:
    • van Kleef, Esmee S.B.;
    • Bouman, Karlijn;
    • Molenaar, Joery P.F.;
    • de Winter, Josine M.;
    • Duijkers, Floor A.M.;
    • Eftimov, Filip;
    • Verschuuren-Bemelmans, Corien C.;
    • van der Laan, Tineke;
    • Küsters, Benno;
    • Malfatti, Edoardo;
    • Kamsteeg, Erik-Jan;
    • van Engelen, Baziel G.M.;
    • Ottenheijm, Coen A.C.;
    • Doorduin, Jonne;
    • Voermans, Nicol C.
    Publication type:
    Article
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    International collaboration to improve knowledge on myotonic dystrophy type 2.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1229, doi. 10.1177/22143602241290353
    By:
    • Peric, Stojan;
    • Ivanovic, Vukan;
    • Ashley, Emma-Jayne;
    • Esparis, Belen;
    • Campbell, Craig;
    • Wenninger, Stephan;
    • Monckton, Darren;
    • Marini-Bettolo, Chiara;
    • Walker, Helen;
    • Voháňka, Stanislav;
    • Cumming, Kleed;
    • Łusakowska, Anna;
    • Hodgkinson, Victoria;
    • Cosyns, Marjan;
    • Rodrigues, Miriam;
    • Yiu, Eppie;
    • Mazanec, Radim;
    • Stevenson, Tanya;
    • Kostera-Pruszczyk, Anna;
    • Korngut, Lawrence
    Publication type:
    Article
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    MICU1 related myopathy – a rare report from India.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1295, doi. 10.1177/22143602241288400
    By:
    • Baskar, Dipti;
    • Ganji, Suma Reddy;
    • Thomas, Aneesha;
    • Polavarapu, Kiran;
    • Nandeesh, Bevinahalli N.;
    • Sanka, Sai Bhargava;
    • Srivastava, Kosha;
    • Kotambail, Ananthapadmanabha;
    • Arunachal, Gautham;
    • Boddu, Vijay Kumar;
    • Nashi, Saraswati;
    • Nalini, Atchayaram;
    • Vengalil, Seena
    Publication type:
    Article
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    Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1190, doi. 10.1177/22143602241288087
    By:
    • Ashrafi, Mahmoud Reza;
    • Babaee, Marzieh;
    • Hashemi Nazari, Seyed Saeed;
    • Barzegar, Mohammad;
    • Ghazavi, Mohammadreza;
    • Beiraghi Toosi, Mehran;
    • Nafissi, Shahriar;
    • Inaloo, Soroor;
    • Zamani Ghaletaki, Gholamreza;
    • Fatehi, Farzad;
    • Heshmat, Ramin;
    • Ghahvechi Akbari, Masood;
    • Abdi, Alireza;
    • Bakhtiary, Hassan;
    • Montazerlotfelahi, Hadi;
    • Abbaskhanian, Ali;
    • Hosseini, Seyed Ahmad;
    • Farshadmoghadam, Hossein;
    • Hosseiny, Seyyed Mohammad Mahdi;
    • Shariatmadari, Fakhreddin
    Publication type:
    Article
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    Asymptomatic and oligosymptomatic states of dysferlinopathy.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1283, doi. 10.1177/22143602241289227
    By:
    • Bardakov, Sergey N;
    • Deev, Roman V;
    • Tsargush, Vadim A;
    • Kaimonov, Vladimir S;
    • Musatova, Elizaveta V;
    • Blagodatskikh, Konstantin A;
    • Tveleneva, Aleksandra A;
    • Sofronova, Yana V;
    • Suslov, Vasiliy M;
    • Carlier, Pierre G;
    • Kurbatov, Sergey A;
    • Yakovlev, Ivan A;
    • Umakhanova, Zoya R;
    • Isaev, Artur A
    Publication type:
    Article
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    Gross motor delays in infants and young boys with Duchenne muscular dystrophy.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1260, doi. 10.1177/22143602241289223
    By:
    • Lowes, Linda P.;
    • Reash, Natalie F.;
    • Iammarino, Megan A.;
    • Connolly, Anne M.;
    • Pietruszewski, Lindsay;
    • Smith, Melissa A.;
    • Peng, Jing;
    • Steiner, Christopher L.;
    • Tsao, Chang-Yong;
    • Waldrop, Megan A.;
    • Flanigan, Kevin M.;
    • Chagat, Shannon;
    • Meyer, Alayne P.;
    • Mendell, Jerry R.;
    • Alfano, Lindsay N.
    Publication type:
    Article
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    Current biomarkers in inclusion body myositis.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 6, p. 1165, doi. 10.1177/22143602241286712
    By:
    • Daniel, Eden;
    • Smith, Ian C.;
    • Sampaio, Marcos L.;
    • Melkus, Gerd;
    • Hamilton, Leslie E.;
    • Bourque, Pierre R.;
    • Warman-Chardon, Jodi
    Publication type:
    Article
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