| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Cardiovascular disease in non-classic Pompe disease: A systematic review
|
van Kooten, H.A.
|
|
|
31 |
2 |
p. 79-90
|
artikel
|
| 2 |
Corrigendum to “Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy” [Neuromuscular Disorders, Vol. 30 (6) 2020, 492-502]
|
Wagner, Kathryn R.
|
|
|
31 |
2 |
p. 167-168
|
artikel
|
| 3 |
Editorial Board
|
|
|
|
31 |
2 |
p. IFC
|
artikel
|
| 4 |
Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience
|
Papadimas, George K.
|
|
|
31 |
2 |
p. 91-100
|
artikel
|
| 5 |
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2
|
Wadman, Renske I.
|
|
|
31 |
2 |
p. 101-112
|
artikel
|
| 6 |
Genetic neuropathies presenting with CIDP-like features in childhood
|
Fernandez-Garcia, Miguel A.
|
|
|
31 |
2 |
p. 113-122
|
artikel
|
| 7 |
Location matters – Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P
|
Reilich, Peter
|
|
|
31 |
2 |
p. 123-133
|
artikel
|
| 8 |
Maintenance treatment with subcutaneous immunoglobulins in the long-term management of anti-HMCGR myopathy
|
Zuppa, Angela
|
|
|
31 |
2 |
p. 134-138
|
artikel
|
| 9 |
Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores
|
Garibaldi, Matteo
|
|
|
31 |
2 |
p. 139-148
|
artikel
|
| 10 |
246th ENMC International Workshop: Protein aggregate myopathies 24–26 May 2019, Hoofddorp, The Netherlands
|
Olivé, Montse
|
|
|
31 |
2 |
p. 158-166
|
artikel
|
| 11 |
Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy
|
Shi, Jiaying
|
|
|
31 |
2 |
p. 149-157
|
artikel
|
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