Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases

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.

Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review

Voet, Nicoline | Pater, Ronne | Garmendia, Joana | Sistiaga, Andone | Labayru, Garazi | Gallais, Benjamin | de Groot, Ingrid | Muslemani, Samar | Gagnon, Cynthia | Graham, Christopher

Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis

Landfeldt, E. | Alemán, A. | Abner, S. | Zhang, R. | Werner, C. | Tomazos, I. | Ferizovic, N. | Lochmüller, H. | Kirschner, J.

Detection of Autoantibodies Against the Acetylcholine Receptor, Evaluation of Commercially Available Methodologies: Fixed Cell-Based Assay, Radioimmunoprecipitation Assay and Enzyme-Linked Immunosorbent Assay

Diogenes, Larissa | Dellavance, Alessandra | Baldo, Danielle Cristiane | Gozzi-Silva, Sarah Cristina | Gomes, Kethellen | Prado, Monica Simon | Andrade, Luis Eduardo C. | Keppeke, Gerson Dierley

Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes

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

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

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

Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3

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.

Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3

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 | Main, Marion | Montes, Jacqueline | Glanzman, Allan M. | Zolkipli-Cunningham, Zarazuela | Pasternak, Amy | Marini-Bettolo, Chiara | Day, John W. | Darras, Basil T. | De Vivo, Darryl C. | Baranello, Giovanni | Scoto, Mariacristina | Finkel, Richard S. | Mercuri, Eugenio | Muntoni, Francesco

Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study

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.

Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy

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.

Stride Velocity 95th Centile Detects Decline in Ambulatory Function Over Shorter Intervals than the 6-Minute Walk Test or North Star Ambulatory Assessment in Duchenne Muscular Dystrophy

Rabbia, Michael | Guridi Ormazabal, Maitea | Staunton, Hannah | Veenstra, Klaas | Eggenspieler, Damien | Annoussamy, Mélanie | Servais, Laurent | Strijbos, Paul

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

Nakamura, Akinori | Matsumura, Tsuyoshi | Takeshima, Yasuhiro | Kuru, Satoshi | Imazaki, Manami | Nonomura, Hidenori | Kaiya, Hisanobu

A c.1775C >T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia

Campanale, Carmen | Laghetti, Paola | Saltarella, Ilaria | Altamura, Concetta | Canioni, Eleonora | Iosa, Emanuele | Maggi, Lorenzo | Brugnoni, Raffaella | Tacconi, Paolo | Desaphy, Jean-François