nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Characteristics of respiratory muscle involvement in myotonic dystrophy type 1
|
Henke, Carolin |
|
|
30 |
1 |
p. 17-27 |
artikel |
2 |
Commentary from the Editor
|
Dubowitz, Victor |
|
|
30 |
1 |
p. 1-4 |
artikel |
3 |
Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases
|
Moreno, Cristiane Araújo Martins |
|
|
30 |
1 |
p. 54-58 |
artikel |
4 |
Discontinuation of enzyme replacement therapy in adults with Pompe disease: Evaluating the European POmpe Consortium stop criteria
|
van Kooten, H.A. |
|
|
30 |
1 |
p. 59-66 |
artikel |
5 |
Editorial Board
|
|
|
|
30 |
1 |
p. IFC |
artikel |
6 |
Fragility fractures and bone mineral density in male patients affected by type 1 and type 2 myotonic dystrophy
|
Passeri, E. |
|
|
30 |
1 |
p. 28-34 |
artikel |
7 |
Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy
|
Servais, Laurent |
|
|
30 |
1 |
p. 5-16 |
artikel |
8 |
Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients
|
Chan, Sophelia HS |
|
|
30 |
1 |
p. 47-53 |
artikel |
9 |
Mutations in the J domain of DNAJB6 cause dominant distal myopathy
|
Palmio, Johanna |
|
|
30 |
1 |
p. 38-46 |
artikel |
10 |
Nivolumab and Ipilimumab-induced myositis and myocarditis mimicking a myasthenia gravis presentation
|
Valenti-Azcarate, Rafael |
|
|
30 |
1 |
p. 67-69 |
artikel |
11 |
239th ENMC International Workshop: Classification of dermatomyositis, Amsterdam, the Netherlands, 14–16 December 2018
|
Mammen, Andrew L. |
|
|
30 |
1 |
p. 70-92 |
artikel |
12 |
244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands
|
Dangouloff, Tamara |
|
|
30 |
1 |
p. 93-103 |
artikel |
13 |
X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype
|
Shaughnessy, Niamh |
|
|
30 |
1 |
p. 35-37 |
artikel |