| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Advance care discussions with young people affected by life-limiting neuromuscular diseases: A systematic literature review and narrative synthesis
|
Hiscock, Andy
|
|
2017
|
27 |
2 |
p. 115-119
5 p.
|
artikel
|
| 2 |
Analysis of TNF-related apoptosis-inducing ligand and receptors and implications in thymus biology and myasthenia gravis
|
Kanatli, Irem
|
|
2017
|
27 |
2 |
p. 128-135
8 p.
|
artikel
|
| 3 |
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype
|
Bednarz, Marcin
|
|
2017
|
27 |
2 |
p. 175-182
8 p.
|
artikel
|
| 4 |
Blunted respiratory drive response in late onset Pompe disease
|
Monteiro, Sergio G.
|
|
2017
|
27 |
2 |
p. 201-202
2 p.
|
artikel
|
| 5 |
Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy
|
Munteanu, Iulia
|
|
2017
|
27 |
2 |
p. 185-187
3 p.
|
artikel
|
| 6 |
Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations
|
Harris, Elizabeth
|
|
2017
|
27 |
2 |
p. 170-174
5 p.
|
artikel
|
| 7 |
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization
|
Aharoni, Sharon
|
|
2017
|
27 |
2 |
p. 136-140
5 p.
|
artikel
|
| 8 |
Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis
|
Campione, Elena
|
|
2017
|
27 |
2 |
p. 163-169
7 p.
|
artikel
|
| 9 |
Editorial Board
|
|
|
2017
|
27 |
2 |
p. CO2-
1 p.
|
artikel
|
| 10 |
Granuloma formation in a patient with GNE myopathy: A case report
|
Nakamura, Keiko
|
|
2017
|
27 |
2 |
p. 183-184
2 p.
|
artikel
|
| 11 |
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
|
Fernández-Marmiesse, Ana
|
|
2017
|
27 |
2 |
p. 188-192
5 p.
|
artikel
|
| 12 |
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot–Marie–Tooth disease type 2 patients
|
Liu, Lei
|
|
2017
|
27 |
2 |
p. 193-199
7 p.
|
artikel
|
| 13 |
Is one trial enough for repeated testing? Same-day assessments of walking, mobility and fine hand use in people with myotonic dystrophy type 1
|
Kierkegaard, Marie
|
|
2017
|
27 |
2 |
p. 153-158
6 p.
|
artikel
|
| 14 |
[No title]
|
Button, Tom
|
|
2017
|
27 |
2 |
p. 200-
1 p.
|
artikel
|
| 15 |
Prevalence of myotonic dystrophy type 1 in adults in western Sweden
|
Lindberg, Christopher
|
|
2017
|
27 |
2 |
p. 159-162
4 p.
|
artikel
|
| 16 |
Quantification of muscle pathology in infantile Pompe disease
|
Schänzer, Anne
|
|
2017
|
27 |
2 |
p. 141-152
12 p.
|
artikel
|
| 17 |
Response
|
Berger, Kenneth I.
|
|
2017
|
27 |
2 |
p. 202-
1 p.
|
artikel
|
| 18 |
Sleep, lung function, and quality of life in patients with myasthenia gravis: A cross-sectional study
|
Oliveira, Ezequiel Fernandes
|
|
2017
|
27 |
2 |
p. 120-127
8 p.
|
artikel
|
| 19 |
Study of Duchenne muscular dystrophy long-term survivors aged 40 years and older living in specialized institutions in Japan
|
Saito, Toshio
|
|
2017
|
27 |
2 |
p. 107-114
8 p.
|
artikel
|
| 20 |
Update in NMD Announcement
|
|
|
2017
|
27 |
2 |
p. IV-
1 p.
|
artikel
|
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