nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A Mixed-Method Study Exploring Patient-Experienced and Caregiver-Reported Benefits and Side Effects of Corticosteroid Use in Duchenne Muscular Dystrophy
|
Fischer, Ryan |
|
|
10 |
4 |
p. 593-613 |
artikel |
2 |
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review
|
Mugisha, Nancy |
|
|
10 |
4 |
p. 493-503 |
artikel |
3 |
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation
|
Camelo, Clara Gontijo |
|
|
10 |
4 |
p. 483-492 |
artikel |
4 |
Development of an International SMA Bulbar Assessment for Inter-professional Administration
|
Dunaway Young, Sally |
|
|
10 |
4 |
p. 639-652 |
artikel |
5 |
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing
|
Chen, Pin-Shiuan |
|
|
10 |
4 |
p. 667-684 |
artikel |
6 |
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis
|
Sun, Zeren |
|
|
10 |
4 |
p. 505-516 |
artikel |
7 |
Energy Expenditure, Body Composition, and Skeletal Muscle Oxidative Capacity in Patients with Myotonic Dystrophy Type 1
|
Joosten, Isis B.T. |
|
|
10 |
4 |
p. 701-712 |
artikel |
8 |
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen
|
Trifunov, Selena |
|
|
10 |
4 |
p. 653-665 |
artikel |
9 |
Impact of Early Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis: A multicenter Randomized Controlled Trial
|
Sarasate, Mikel |
|
|
10 |
4 |
p. 627-637 |
artikel |
10 |
Life Experiences in Neuromuscular Tracheotomized Patients in Times of Covid-19
|
Volpato, Eleonora |
|
|
10 |
4 |
p. 517-529 |
artikel |
11 |
Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?
|
Pane, Marika |
|
|
10 |
4 |
p. 567-574 |
artikel |
12 |
Muscle Specific Promotors for Gene Therapy – A Comparative Study in Proliferating and Differentiated Cells
|
Dietz, Julienne |
|
|
10 |
4 |
p. 575-592 |
artikel |
13 |
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility
|
van den Bersselaar, Luuk R. |
|
|
10 |
4 |
p. 541-554 |
artikel |
14 |
MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO)
|
Baskar, Dipti |
|
|
10 |
4 |
p. 727-730 |
artikel |
15 |
Pamrevlumab, a Fully Human Monoclonal Antibody Targeting Connective Tissue Growth Factor, for Non-Ambulatory Patients with Duchenne Muscular Dystrophy
|
Connolly, Anne M. |
|
|
10 |
4 |
p. 685-699 |
artikel |
16 |
Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment1
|
McGrattan, Katlyn E. |
|
|
10 |
4 |
p. 531-540 |
artikel |
17 |
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan
|
Suzuki, Naoki |
|
|
10 |
4 |
p. 555-566 |
artikel |
18 |
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients
|
Unnikrishnan, Gopikrishnan |
|
|
10 |
4 |
p. 615-626 |
artikel |
19 |
RNA Transcript Diversity in Neuromuscular Research
|
Lim, Wooi Fang |
|
|
10 |
4 |
p. 473-482 |
artikel |
20 |
Subjective Sleep Quality as it Relates to Cognitive and Physical Function in Spinal Muscular Atrophy Patients
|
Wennberg, Alexandra |
|
|
10 |
4 |
p. 713-717 |
artikel |
21 |
Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen
|
Machetanz, Gerrit |
|
|
10 |
4 |
p. 719-725 |
artikel |