| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy
|
Gangfuß, Andrea
|
|
|
11 |
2 |
p. 485-491
|
artikel
|
| 2 |
Antisense Oligonucleotide-Mediated Downregulation of IGFBPs Enhances IGF-1 Signaling
|
Yavas, Alper
|
|
|
11 |
2 |
p. 299-314
|
artikel
|
| 3 |
Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation
|
Lu, Qi L.
|
|
|
11 |
2 |
p. 275-284
|
artikel
|
| 4 |
Burden of Disease of Duchenne Muscular Dystrophy in Denmark – A National Register-Based Study of Individuals with Duchenne Muscular Dystrophy and their Closest Relatives
|
Rudolfsen, Jan Håkon
|
|
|
11 |
2 |
p. 443-457
|
artikel
|
| 5 |
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study
|
Ricci, Giulia
|
|
|
11 |
2 |
p. 375-387
|
artikel
|
| 6 |
Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies – Developing Potential Treatments for the Entire Spectrum of Disease
|
McDonald, Craig
|
|
|
11 |
2 |
p. 499-523
|
artikel
|
| 7 |
DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing
|
Zang, Jana
|
|
|
11 |
2 |
p. 473-483
|
artikel
|
| 8 |
Expert Insights from a Delphi-driven Neurologists’ Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy
|
Lidonnici, Dario
|
|
|
11 |
2 |
p. 411-423
|
artikel
|
| 9 |
Facioscapulohumeral Muscular Dystrophy European Patient Survey: Assessing Patient Reported Disease Burden and Preferences in Clinical Trial Participation
|
McNiff, Megan M.
|
|
|
11 |
2 |
p. 459-472
|
artikel
|
| 10 |
IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy
|
Greco, Anna
|
|
|
11 |
2 |
p. 327-347
|
artikel
|
| 11 |
Living with Dysphagia: A Survey Exploring the Experiences of Adults Living with Neuromuscular Disease and their Caregivers in the United Kingdom
|
Allen, Jodi
|
|
|
11 |
2 |
p. 389-410
|
artikel
|
| 12 |
Post-hoc Nonparametric Analysis of Forced Vital Capacity in the COMET Trial Demonstrates Superiority of Avalglucosidase Alfa vs Alglucosidase Alfa
|
Boentert, Matthias
|
|
|
11 |
2 |
p. 369-374
|
artikel
|
| 13 |
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
|
Servais, Laurent
|
|
|
11 |
2 |
p. 425-442
|
artikel
|
| 14 |
Repeated AAV9 Titer Determination in a Presymptomatic SMA Patient with Three SMN2 Gene Copies – A Case Report
|
Eisenkölbl, Astrid
|
|
|
11 |
2 |
p. 493-498
|
artikel
|
| 15 |
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain
|
Cornell, Nikki
|
|
|
11 |
2 |
p. 361-368
|
artikel
|
| 16 |
SERCA1 Overexpression in Skeletal Muscle Attenuates Muscle Atrophy and Improves Motor Function in a Mouse Model of ALS
|
Mázala, Davi A.G.
|
|
|
11 |
2 |
p. 315-326
|
artikel
|
| 17 |
The Early Care (0–3 Years) In Duchenne Muscular Dystrophy Meeting Report
|
Armstrong, Niki
|
|
|
11 |
2 |
p. 525-533
|
artikel
|
| 18 |
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy
|
Bello, Luca
|
|
|
11 |
2 |
p. 285-297
|
artikel
|
| 19 |
The Importance of Early Treatment of Inherited Neuromuscular Conditions
|
Mackels, Laurane
|
|
|
11 |
2 |
p. 253-274
|
artikel
|
| 20 |
Treatment of Symptomatic Spinal Muscular Atrophy with Nusinersen: A Prospective Longitudinal Study on Scoliosis Progression
|
Ip, Hoi Ning Hayley
|
|
|
11 |
2 |
p. 349-359
|
artikel
|
Tijdschrift beschrijving