nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A late-onset congenital myasthenic syndrome due to a heterozygous DOK7 mutation
|
Bastos, Paulo |
|
|
30 |
4 |
p. 331-335 |
artikel |
2 |
Beyond ambulation: Measuring physical activity in youth with Duchenne muscular dystrophy
|
Killian, Mary |
|
|
30 |
4 |
p. 277-282 |
artikel |
3 |
Book review
|
Sarkozy, Anna |
|
|
30 |
4 |
p. 351 |
artikel |
4 |
Editorial Board
|
|
|
|
30 |
4 |
p. IFC |
artikel |
5 |
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients
|
Mroczek, Magdalena |
|
|
30 |
4 |
p. 310-314 |
artikel |
6 |
Exploring the efficacy of the expiratory muscle strength trainer to improve swallowing in inclusion body myositis: A pilot study
|
Mohannak, Nika |
|
|
30 |
4 |
p. 294-300 |
artikel |
7 |
Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms
|
Banerji, Christopher R.S. |
|
|
30 |
4 |
p. 315-328 |
artikel |
8 |
No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency
|
Andersen, A.G. |
|
|
30 |
4 |
p. 340-345 |
artikel |
9 |
Obstructive sleep apnea in late-onset Pompe disease treated by enzyme replacement therapy
|
Bhui, Raj |
|
|
30 |
4 |
p. 329-330 |
artikel |
10 |
Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant
|
Joshi, Pushpa Raj |
|
|
30 |
4 |
p. 346-350 |
artikel |
11 |
Randomisation versus prioritisation in a managed access programme: Lessons from spinal muscular atrophy
|
Servais, Laurent |
|
|
30 |
4 |
p. 267-269 |
artikel |
12 |
Screening for early symptoms of respiratory involvement in myotonic dystrophy type 1 using the Respicheck questionnaire
|
De Mattia, Elisa |
|
|
30 |
4 |
p. 301-309 |
artikel |
13 |
Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene
|
Bonanno, Carmen |
|
|
30 |
4 |
p. 336-339 |
artikel |
14 |
Strength-training effectively alleviates skeletal muscle impairments in myotonic dystrophy type 1
|
Roussel, Marie-Pier |
|
|
30 |
4 |
p. 283-293 |
artikel |
15 |
The endocrine manifestations of spinal muscular atrophy, a real-life observational study
|
Brener, Avivit |
|
|
30 |
4 |
p. 270-276 |
artikel |