Works matching IS 22143599 AND DT 2022 AND VI 9 AND IP 1


Results: 19
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    Neurofilament Levels in CSF and Serum in an Adult SMA Cohort Treated with Nusinersen.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 111, doi. 10.3233/JND-210735
    By:
    • Rich, Kelly A.;
    • Fox, Ashley;
    • Yalvac, Mehmet;
    • Heintzman, Sarah;
    • Tellez, Marco;
    • Bartlett, Amy;
    • Severyn, Steven;
    • Linsenmayer, Mathew;
    • Kelly, Kristina;
    • Reynolds, Jerry;
    • Sterling, Gary Brent;
    • Weaver, Tristan;
    • Rajneesh, Kiran;
    • Pino, Megan G.;
    • Arnold, W. David;
    • Elsheikh, Bakri;
    • Kolb, Stephen J.
    Publication type:
    Article
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    Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 73, doi. 10.3233/JND-210712
    By:
    • Molera, Cristina;
    • Sarishvili, Tinatin;
    • Nascimento, Andrés;
    • Rtskhiladze, Irakli;
    • Muñoz Bartolo, Gema;
    • Fernández Cebrián, Santiago;
    • Valverde Fernández, Justo;
    • Muñoz Cabello, Beatriz;
    • Graham, Robert J.;
    • Miller, Weston;
    • Sepulveda, Bryan;
    • Kamath, Binita M.;
    • Meng, Hui;
    • Lawlor, Michael W.
    Publication type:
    Article
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    Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 83, doi. 10.3233/JND-210711
    By:
    • Gros, Marilyn;
    • Nunes, Andreia M.;
    • Daoudlarian, Douglas;
    • Pini, Jonathan;
    • Martinuzzi, Emanuela;
    • Barbosa, Susana;
    • Ramirez, Monique;
    • Puma, Angela;
    • Villa, Luisa;
    • Cavalli, Michele;
    • Grecu, Nicolae;
    • Garcia, Jérémy;
    • Siciliano, Gabriele;
    • Solé, Guilhem;
    • Juntas-Morales, Raul;
    • Jones, Peter L.;
    • Jones, Takako;
    • Glaichenhaus, Nicolas;
    • Sacconi, Sabrina
    Publication type:
    Article
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    A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 39, doi. 10.3233/JND-210665
    By:
    • Mitelman, Olga;
    • Abdel-Hamid, Hoda Z.;
    • Byrne, Barry J.;
    • Connolly, Anne M.;
    • Heydemann, Peter;
    • Proud, Crystal;
    • Shieh, Perry B.;
    • Wagner, Kathryn R.;
    • Dugar, Ashish;
    • Santra, Sourav;
    • Signorovitch, James;
    • Goemans, Nathalie;
    • McDonald, Craig M.;
    • Mercuri, Eugenio;
    • Mendell, Jerry R.
    Publication type:
    Article
    18

    A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 193, doi. 10.3233/JND-210652
    By:
    • Megarbane, Andre;
    • Bizzari, Sami;
    • Deepthi, Asha;
    • Sabbagh, Sandra;
    • Mansour, Hicham;
    • Chouery, Eliane;
    • Hmaimess, Ghassan;
    • Jabbour, Rosette;
    • Mehawej, Cybel;
    • Alame, Saada;
    • Hani, Abeer;
    • Hasbini, Dana;
    • Ghanem, Ismat;
    • Koussa, Salam;
    • Al-Ali, Mahmoud Taleb;
    • Obeid, Marc;
    • Talea, Diana Bou;
    • Lefranc, Gerard;
    • Lévy, Nicolas;
    • Leturcq, France
    Publication type:
    Article
    19

    Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 95, doi. 10.3233/JND-200628
    By:
    • Siddiqui, Shahyan;
    • Polavarapu, Kiran;
    • Bardhan, Mainak;
    • Preethish-Kumar, Veeramani;
    • Joshi, Aditi;
    • Nashi, Saraswati;
    • Vengalil, Seena;
    • Raju, Sanita;
    • Chawla, Tanushree;
    • Leena, Shingavi;
    • Mathur, Aradhana;
    • Nayak, Sushmita;
    • Mohan, Dhaarini;
    • Shamim, Uzma;
    • Prasad, Chandrajit;
    • Lochmüller, Hanns;
    • Faruq, Mohammed;
    • Nalini, Atchayaram
    Publication type:
    Article