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Journal of Neuromuscular Diseases|July 12, 2024
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular AtrophyEduardo Arteaga-Bracho, Gautier Cosne, Christoph Kanzler, et al.Brain : a Journal of Neurology|September 13, 2022
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophyHannes Erdmann, Florentine Scharf, Stefanie Gehling, et al.Neuromuscular Disorders : NMD|November 16, 2019
MYO-MRI diagnostic protocols in genetic myopathiesJodi Warman Chardon, Jordi Díaz-Manera, Giorgio Tasca, et al.Journal of Neurology|September 27, 2019
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)Andrea Barp, Pascal Laforet, Luca Bello, et al.Brain : a Journal of Neurology|December 7, 2007
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patientsRudolf A Kley, Yorck Hellenbroich, Peter F M van der Ven, et al.Journal of Cachexia, Sarcopenia and Muscle|August 15, 2025
High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2Zoe White, Laura Rufibach, Heather Gordish Dressman, et al.Journal of Neuromuscular Diseases|July 10, 2023
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient CohortStephanie Kleinle, Veronika Scholz, Anna Benet-Pagés, et al.Journal of Neurology|May 26, 2026
Identification of prognostic biomarkers in a large cohort of patients with LGMD R2Carla F Bolano-Diaz, Jose Verdu-Diaz, Dan Hao, et al.Neuromuscular Disorders : NMD|March 27, 2023
Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI patternLaura Llansó, Ursula Moore, Carla Bolano-Diaz, et al.Neuromuscular Disorders : NMD|January 23, 2023
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathyUrsula Moore, Esther Fernández-Simón, Marianela Schiava, et al.Pageof 16