Works matching IS 22143599 AND DT 2024 AND VI 11

Results: 103
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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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    The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1095, doi. 10.3233/JND-240061
    By:
    • van de Velde, N.M.;
    • Krom, Y.D.;
    • Bongers, J.;
    • Hoek, R.J.A.;
    • Ikelaar, N.A.;
    • van der Holst, M.;
    • Naarding, K.J.;
    • van den Bergen, J.C.;
    • Vroom, E.;
    • Horemans, A.;
    • Hendriksen, J.G.M.;
    • de Groot, I.J.M.;
    • Houwen-van Opstal, S.L.S.;
    • Verschuuren, J.J.G.M.;
    • van Duyvenvoorde, H.A.;
    • Snijder, R.R.;
    • Niks, E.H.
    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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    Clinician Perspectives of Gene Therapy as a Treatment Option for Duchenne Muscular Dystrophy.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1085, doi. 10.3233/JND-240033
    By:
    • Cope, Heidi;
    • Fischer, Ryan;
    • Heslop, Emma;
    • McNiff, Megan;
    • Johnson, Alexandra;
    • Camino, Eric;
    • Denger, Brian;
    • Armstrong, Niki;
    • Thakrar, Sejal;
    • Bateman-House, Alison;
    • Beaverson, Katherine L.;
    • Woollacott, Ione O.C.;
    • Phillips, Dawn;
    • Fernandez, Vivian;
    • Ganot, Annie;
    • Donisa-Dreghici, Roxana;
    • Mansfield, Carol;
    • Peay, Holly
    Publication type:
    Article
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    A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1021, doi. 10.3233/JND-240023
    By:
    • Enzmann, Cornelia;
    • Steiner, Leonie;
    • Pospieszny, Katarzyna;
    • Zweier, Christiane;
    • Plattner, Kevin;
    • Baumann, Dominique;
    • Henzi, Bettina;
    • Galiart, Elea;
    • Fink, Mirjam;
    • Jacquier, David;
    • Stettner, Georg M.;
    • Ripellino, Paolo;
    • Fluss, Joel;
    • Klein, Andrea;
    • Jung, Hans H.;
    • Kuehni, Claudia E.;
    • Mathis, Andrea;
    • Scheidegger, Oliver;
    • Schreiner, Bettina;
    • Schwarz, Esther I.
    Publication type:
    Article
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    Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1049, doi. 10.3233/JND-240004
    By:
    • Arteaga-Bracho, Eduardo;
    • Cosne, Gautier;
    • Kanzler, Christoph;
    • Karatsidis, Angelos;
    • Mazzà, Claudia;
    • Penalver-Andres, Joaquin;
    • Zhu, Cong;
    • Shen, Changyu;
    • Erb M., Kelley;
    • Freigang, Maren;
    • Lapp, Hanna-Sophie;
    • Thiele, Simone;
    • Wenninger, Stephan;
    • Jung, Erik;
    • Petri, Susanne;
    • Weiler, Markus;
    • Kleinschnitz, Christoph;
    • Walter, Maggie C.;
    • Günther, René;
    • Campbell, Nolan
    Publication type:
    Article
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    Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1035, doi. 10.3233/JND-230236
    By:
    • Baumgartner, Daniel;
    • Mušová, Zuzana;
    • Zídková, Jana;
    • Hedvičáková, Petra;
    • Vlčková, Eva;
    • Joppeková, Lubica;
    • Kramářová, Tereza;
    • Fajkusová, Lenka;
    • Stránecký, Viktor;
    • Geryk, Jan;
    • Votýpka, Pavel;
    • Mazanec, Radim
    Publication type:
    Article
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    Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1011, doi. 10.3233/JND-230235
    By:
    • Kastreva, Kristina;
    • Chamova, Teodora;
    • Blagoeva, Stanislava;
    • Bichev, Stoyan;
    • Mihaylova, Violeta;
    • Meyer, Stefanie;
    • Thompson, Rachel;
    • Cherninkova, Sylvia;
    • Guergueltcheva, Velina;
    • Lochmuller, Hanns;
    • Tournev, Ivailo
    Publication type:
    Article
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    GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 959, doi. 10.3233/JND-230130
    By:
    • Baskar, Dipti;
    • Reddy, Nishanth;
    • Preethish-Kumar, Veeramani;
    • Polavarapu, Kiran;
    • Nishadham, Vikas;
    • Vengalil, Seena;
    • Nashi, Saraswati;
    • Sanka, Sai Bhargava;
    • Bardhan, Mainak;
    • Huddar, Akshata;
    • Unnikrishnan, Gopikrishnan;
    • Harikrishna, Ganaraja Valakunja;
    • Gunasekaran, Swetha;
    • Thomas, Priya Treesa;
    • Keerthipriya, Muddasu Suhasini;
    • Girija, Manu Santhappan;
    • Arunachal, Gautham;
    • Anjanappa, Ram Murthy;
    • Nishino, Ichizo;
    • Pogoryelova, Oksana
    Publication type:
    Article
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    Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 935, doi. 10.3233/JND-230021
    By:
    • Harikrishna, Ganaraja Valakunja;
    • Padmanabha, Hansashree;
    • Polavarapu, Kiran;
    • Anjanappa, Ram Murthy;
    • Preethish-Kumar, Veeramani;
    • Nandeesh, Bevinahalli Nanjegowda;
    • Vengalil, Seena;
    • Nashi, Saraswati;
    • Baskar, Dipti;
    • Thomas, Aneesha;
    • Bardhan, Mainak;
    • Arunachal, Gautham;
    • Menon, Deepak;
    • Sanka, Sai Bhargava;
    • Manjunath, Nisha;
    • Nalini, Atchayaram
    Publication type:
    Article
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