| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles
|
Liewluck, Teerin
|
|
2019
|
29 |
5 |
p. 388-391
|
artikel
|
| 2 |
A review of the histopathological findings in myasthenia gravis: Clues to the pathogenesis of treatment-resistance in extraocular muscles
|
Europa, Tarin A.
|
|
2019
|
29 |
5 |
p. 381-387
|
artikel
|
| 3 |
Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family
|
Ikenberg, Elena
|
|
2019
|
29 |
5 |
p. 392-397
|
artikel
|
| 4 |
Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia
|
Schlapakow, Elena
|
|
2019
|
29 |
5 |
p. 358-367
|
artikel
|
| 5 |
Editorial Board
|
|
|
2019
|
29 |
5 |
p. IFC
|
artikel
|
| 6 |
Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI
|
Saredi, Simona
|
|
2019
|
29 |
5 |
p. 376-380
|
artikel
|
| 7 |
Newborn screening for SMA in Southern Belgium
|
Boemer, François
|
|
2019
|
29 |
5 |
p. 343-349
|
artikel
|
| 8 |
Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement
|
Ge, Lin
|
|
2019
|
29 |
5 |
p. 350-357
|
artikel
|
| 9 |
237th ENMC International Workshop: GNE myopathy – current and future research Hoofddorp, The Netherlands, 14–16 September 2018
|
Pogoryelova, Oksana
|
|
2019
|
29 |
5 |
p. 401-410
|
artikel
|
| 10 |
Unraveling upper extremity performance in Duchenne muscular dystrophy: A biophysical model
|
Janssen, Mariska M.H.P.
|
|
2019
|
29 |
5 |
p. 368-375
|
artikel
|
| 11 |
Wrist drop in an arcade dancing game: Unusual sudden bilateral radial palsy
|
Cea, Gabriel
|
|
2019
|
29 |
5 |
p. 398-400
|
artikel
|
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