| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy
|
Zaum, Ann-Kathrin
|
|
2018
|
28 |
8 |
p. 671-674
|
artikel
|
| 2 |
A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement
|
Gonzalez-Quereda, Lidia
|
|
2018
|
28 |
8 |
p. 633-638
|
artikel
|
| 3 |
A novel AIFM1 mutation in a Chinese family with X-linked Charcot–Marie–Tooth disease type 4
|
Wang, Binghao
|
|
2018
|
28 |
8 |
p. 652-659
|
artikel
|
| 4 |
Charcot–Marie–Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence
|
Arntzen, Kjell Arne
|
|
2018
|
28 |
8 |
p. 639-645
|
artikel
|
| 5 |
Editorial Board
|
|
|
2018
|
28 |
8 |
p. IFC
|
artikel
|
| 6 |
Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy
|
Findlay, Andrew R.
|
|
2018
|
28 |
8 |
p. 675-679
|
artikel
|
| 7 |
Ketoacidosis in Duchenne muscular dystrophy: A report on 4 cases
|
Doris, T.E.
|
|
2018
|
28 |
8 |
p. 665-670
|
artikel
|
| 8 |
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation
|
Chamova, Teodora
|
|
2018
|
28 |
8 |
p. 625-632
|
artikel
|
| 9 |
Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy
|
Meng, Lingchao
|
|
2018
|
28 |
8 |
p. 646-651
|
artikel
|
| 10 |
Nutrition in Duchenne muscular dystrophy 16–18 March 2018, Zaandam, the Netherlands
|
Verhaart, Ingrid E.C.
|
|
2018
|
28 |
8 |
p. 680-689
|
artikel
|
| 11 |
Report on the workshop: Meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30–31 January 2017
|
Straub, Volker
|
|
2018
|
28 |
8 |
p. 690-701
|
artikel
|
| 12 |
Sensitivity and clinical utility of the anti-cytosolic 5′-nucleotidase 1A (cN1A) antibody test in sporadic inclusion body myositis: Report of 40 patients from a single neuromuscular center
|
Felice, Kevin J.
|
|
2018
|
28 |
8 |
p. 660-664
|
artikel
|
| 13 |
229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017
|
Straub, Volker
|
|
2018
|
28 |
8 |
p. 702-710
|
artikel
|
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