| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease
|
Sampaolo, Simone
|
|
2015
|
25 |
3 |
p. 247-252
6 p.
|
artikel
|
| 2 |
A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy
|
McCann, Beverly Jo
|
|
2015
|
25 |
3 |
p. 262-267
6 p.
|
artikel
|
| 3 |
Autophagic vacuolar pathology in desminopathies
|
Weihl, Conrad C.
|
|
2015
|
25 |
3 |
p. 199-206
8 p.
|
artikel
|
| 4 |
Change in physical mobility over 10 years in post-polio syndrome
|
Bickerstaffe, A.
|
|
2015
|
25 |
3 |
p. 225-230
6 p.
|
artikel
|
| 5 |
Congenital Myasthenic Syndrome caused by mutations in DPAGT
|
Klein, Andrea
|
|
2015
|
25 |
3 |
p. 253-256
4 p.
|
artikel
|
| 6 |
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect
|
Guo, Yiran
|
|
2015
|
25 |
3 |
p. 257-261
5 p.
|
artikel
|
| 7 |
Editorial Board
|
|
|
2015
|
25 |
3 |
p. CO2-
1 p.
|
artikel
|
| 8 |
Hip flexion weakness is associated with impaired mobility in oculopharyngeal muscular dystrophy: A retrospective study with implications for trial design
|
Youssof, Sarah
|
|
2015
|
25 |
3 |
p. 238-246
9 p.
|
artikel
|
| 9 |
Motor unit loss estimation by the multipoint incremental MUNE method in children with spinal muscular atrophy – A preliminary study
|
Gawel, Malgorzata
|
|
2015
|
25 |
3 |
p. 216-221
6 p.
|
artikel
|
| 10 |
Non-coding VMA21 deletions cause X-linked Myopathy with Excessive Autophagy
|
Ruggieri, A.
|
|
2015
|
25 |
3 |
p. 207-211
5 p.
|
artikel
|
| 11 |
Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia
|
Wang, Heng
|
|
2015
|
25 |
3 |
p. 273-
1 p.
|
artikel
|
| 12 |
Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity
|
van den Bergen, J.C.
|
|
2015
|
25 |
3 |
p. 231-237
7 p.
|
artikel
|
| 13 |
205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands
|
De Bleecker, Jan L.
|
|
2015
|
25 |
3 |
p. 268-272
5 p.
|
artikel
|
| 14 |
19th World Muscle Society Congress, Berlin 2014 A City of Cranes and Dinosaurs
|
Miller, Jane
|
|
2015
|
25 |
3 |
p. 274-279
6 p.
|
artikel
|
| 15 |
Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1
|
Giráldez, Beatriz G.
|
|
2015
|
25 |
3 |
p. 222-224
3 p.
|
artikel
|
| 16 |
Upper limb module in non-ambulant patients with spinal muscular atrophy: 12 month changes
|
Sivo, Serena
|
|
2015
|
25 |
3 |
p. 212-215
4 p.
|
artikel
|
Tijdschrift beschrijving