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Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 655, doi. 10.3233/JND-240007
By:
- van Bruggen, H. Willemijn;
- Wijngaarde, Camiel A.;
- Asselman, Faylynn;
- Stam, Marloes;
- Creugers, Nico H.J.;
- Wadman, Renske I.;
- van der Pol, W. Ludo;
- Kalaykova, Stanimira I.
Publication type:
Article
Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 567, doi. 10.3233/JND-240003
By:
- Voet, Nicoline;
- Pater, Ronne;
- Garmendia, Joana;
- Sistiaga, Andone;
- Labayru, Garazi;
- Gallais, Benjamin;
- de Groot, Ingrid;
- Muslemani, Samar;
- Gagnon, Cynthia;
- Graham, Christopher
Publication type:
Article
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 625, doi. 10.3233/JND-230230
By:
- Della Marina, Adela;
- Hentschel, Andreas;
- Czech, Artur;
- Schara-Schmidt, Ulrike;
- Preusse, Corinna;
- Laner, Andreas;
- Abicht, Angela;
- Ruck, Tobias;
- Weis, Joachim;
- Choueiri, Catherine;
- Lochmüller, Hanns;
- Kölbel, Heike;
- Roos, Andreas
Publication type:
Article
Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 579, doi. 10.3233/JND-230220
By:
- Landfeldt, E.;
- Alemán, A.;
- Abner, S.;
- Zhang, R.;
- Werner, C.;
- Tomazos, I.;
- Ferizovic, N.;
- Lochmüller, H.;
- Kirschner, J.
Publication type:
Article
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
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
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
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
Stride Velocity 95<sup>th</sup> Centile Detects Decline in Ambulatory Function Over Shorter Intervals than the 6-Minute Walk Test or North Star Ambulatory Assessment in Duchenne Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 701, doi. 10.3233/JND-230188
By:
- Rabbia, Michael;
- Guridi Ormazabal, Maitea;
- Staunton, Hannah;
- Veenstra, Klaas;
- Eggenspieler, Damien;
- Annoussamy, Mélanie;
- Servais, Laurent;
- Strijbos, Paul
Publication type:
Article
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
The Association Between Physical Activity/Heart Rate Variability Data Obtained Using a Wearable Device and Timed Motor Functional Tests in Patients with Duchenne Muscular Dystrophy: A Pilot Study.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 715, doi. 10.3233/JND-230142
By:
- Nakamura, Akinori;
- Matsumura, Tsuyoshi;
- Takeshima, Yasuhiro;
- Kuru, Satoshi;
- Imazaki, Manami;
- Nonomura, Hidenori;
- Kaiya, Hisanobu
Publication type:
Article
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 725, doi. 10.3233/JND-230134
By:
- Campanale, Carmen;
- Laghetti, Paola;
- Saltarella, Ilaria;
- Altamura, Concetta;
- Canioni, Eleonora;
- Iosa, Emanuele;
- Maggi, Lorenzo;
- Brugnoni, Raffaella;
- Tacconi, Paolo;
- Desaphy, Jean-François
Publication type:
Article
Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 679, doi. 10.3233/JND-230107
By:
- Nicolau, Stefan;
- Malhotra, Jyoti;
- Kaler, Maryann;
- Magistrado-Coxen, Pamela;
- Iammarino, Megan A.;
- Reash, Natalie F.;
- Frair, Emma C.;
- Wijeratne, Saranga;
- Kelly, Benjamin J.;
- White, Peter;
- Lowes, Linda P.;
- Waldrop, Megan A.;
- Flanigan, Kevin M.
Publication type:
Article

Found: 13