| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
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
|
|
|
11 |
3 |
p. 725-734
|
article
|
| 2 |
Detection of Autoantibodies Against the Acetylcholine Receptor, Evaluation of Commercially Available Methodologies: Fixed Cell-Based Assay, Radioimmunoprecipitation Assay and Enzyme-Linked Immunosorbent Assay1
|
Diogenes, Larissa
|
|
|
11 |
3 |
p. 613-623
|
article
|
| 3 |
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3
|
Wolfe, Amy
|
|
|
11 |
3 |
p. 665-677
|
article
|
| 4 |
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy
|
Estévez-Arias, Berta
|
|
|
11 |
3 |
p. 647-653
|
article
|
| 5 |
Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study
|
Nicolau, Stefan
|
|
|
11 |
3 |
p. 679-685
|
article
|
| 6 |
Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy
|
Zaidman, Craig M.
|
|
|
11 |
3 |
p. 687-699
|
article
|
| 7 |
Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3
|
van Bruggen, H. Willemijn
|
|
|
11 |
3 |
p. 655-664
|
article
|
| 8 |
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes
|
Della Marina, Adela
|
|
|
11 |
3 |
p. 625-645
|
article
|
| 9 |
Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review
|
Voet, Nicoline
|
|
|
11 |
3 |
p. 567-577
|
article
|
| 10 |
Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis
|
Landfeldt, E.
|
|
|
11 |
3 |
p. 579-612
|
article
|
| 11 |
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
|
|
|
11 |
3 |
p. 701-714
|
article
|
| 12 |
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
|
|
|
11 |
3 |
p. 715-724
|
article
|
| 13 |
Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases
|
Rasing, Nathaniël B.
|
|
|
11 |
3 |
p. 535-565
|
article
|
Journal description