| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion
|
Takahashi, Yoshiaki
|
|
|
10 |
3 |
p. 459-463
|
artikel
|
| 2 |
Central Bradypnea and Ataxic Breathing in Myotonic Dystrophy Type 1 – A Clinical Case Report
|
Summ, Oliver
|
|
|
10 |
3 |
p. 465-471
|
artikel
|
| 3 |
Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study
|
Clemens, Paula R.
|
|
|
10 |
3 |
p. 439-447
|
artikel
|
| 4 |
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases
|
Lake, Nicole J.
|
|
|
10 |
3 |
p. 381-387
|
artikel
|
| 5 |
Facioscapulohumeral Disease as a myodevelopmental disease: Applying Ockham’s razor to its various features
|
Padberg, G.W.
|
|
|
10 |
3 |
p. 411-425
|
artikel
|
| 6 |
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)
|
Finkel, Richard S.
|
|
|
10 |
3 |
p. 389-404
|
artikel
|
| 7 |
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen
|
Krosschell, Kristin J.
|
|
|
10 |
3 |
p. 337-348
|
artikel
|
| 8 |
Meeting Report: 2022 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Transfer Therapy’
|
Lek, Angela
|
|
|
10 |
3 |
p. 327-336
|
artikel
|
| 9 |
Modeling Early Heterogeneous Rates of Progression in Boys with Duchenne Muscular Dystrophy
|
Fang, Yuan
|
|
|
10 |
3 |
p. 349-364
|
artikel
|
| 10 |
Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature
|
Cheli, Marta
|
|
|
10 |
3 |
p. 449-458
|
artikel
|
| 11 |
Oculomotor Dysfunction in Motor Neuron Disease
|
Youn, Clover E.
|
|
|
10 |
3 |
p. 405-410
|
artikel
|
| 12 |
Psychometric Characteristics of the Motor Function Measure in Neuromuscular Diseases: A Systematic Review1
|
Ribault, Shams
|
|
|
10 |
3 |
p. 301-314
|
artikel
|
| 13 |
Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study
|
van der Heul, A.M.B.
|
|
|
10 |
3 |
p. 427-438
|
artikel
|
| 14 |
The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience
|
Aartsma-Rus, Annemieke
|
|
|
10 |
3 |
p. 315-325
|
artikel
|
| 15 |
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations
|
Kilroy, Elisabeth A
|
|
|
10 |
3 |
p. 365-380
|
artikel
|
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