| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A DM1 patient with CCG variant repeats: Reaching the diagnosis
|
Cumming, Sarah A.
|
|
|
31 |
3 |
p. 232-238
|
artikel
|
| 2 |
Analysis of complex structural variants in the DMD gene in one family
|
Luce, Leonela
|
|
|
31 |
3 |
p. 253-263
|
artikel
|
| 3 |
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation
|
Rocha, Maria L.
|
|
|
31 |
3 |
p. 239-245
|
artikel
|
| 4 |
A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report
|
Vidanagamage, Anomali
|
|
|
31 |
3 |
p. 246-248
|
artikel
|
| 5 |
A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan
|
Kuo, Yih-Chih
|
|
|
31 |
3 |
p. 218-225
|
artikel
|
| 6 |
Characterization of cannabis use by patients with myotonic dystrophy type 1: A pilot study
|
Beauchesne, William
|
|
|
31 |
3 |
p. 226-231
|
artikel
|
| 7 |
Corrigendum to “Workshop report: 242nd ENMC international workshop: Diagnosis and management of juvenile myasthenia gravis, Hoofddorp, the Netherlands, 1–3 March 2019” [Neuromuscular Disorders 30 (2020) 254–264]
|
Munot, Pinki
|
|
|
31 |
3 |
p. 264
|
artikel
|
| 8 |
Desminopathy presenting as late onset bilateral facial weakness, with diagnosis supported by lower limb MRI
|
Carroll, Liam S.
|
|
|
31 |
3 |
p. 249-252
|
artikel
|
| 9 |
Editorial Board
|
|
|
|
31 |
3 |
p. IFC
|
artikel
|
| 10 |
ENMC mentoring notice
|
|
|
|
31 |
3 |
p. I
|
artikel
|
| 11 |
Isokinetic strength and degeneration of lower extremity muscles in patients with myotonic dystrophy; an MRI study
|
Steenkjaer, C.H.
|
|
|
31 |
3 |
p. 198-211
|
artikel
|
| 12 |
Nusinersen treatment of older children and adults with spinal muscular atrophy
|
Konersman, Chamindra G.
|
|
|
31 |
3 |
p. 183-193
|
artikel
|
| 13 |
Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects
|
Zambon, Alberto A.
|
|
|
31 |
3 |
p. 212-217
|
artikel
|
| 14 |
Physical training and exercise in myasthenia gravis
|
Gilhus, Nils Erik
|
|
|
31 |
3 |
p. 169-173
|
artikel
|
| 15 |
Respiratory decline in adult patients with Becker muscular dystrophy: A longitudinal study
|
De Wel, Bram
|
|
|
31 |
3 |
p. 174-182
|
artikel
|
| 16 |
Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy
|
Sato, Takatoshi
|
|
|
31 |
3 |
p. 194-197
|
artikel
|
Tijdschrift beschrijving