| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome
|
Khani, Marzieh
|
|
|
31 |
6 |
p. 528-531
|
artikel
|
| 2 |
A novel nonsense variant in MT-CO3 causes MELAS syndrome
|
Wang, Wei
|
|
|
31 |
6 |
p. 558-565
|
artikel
|
| 3 |
Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency
|
Akar, Halil Tuna
|
|
|
31 |
6 |
p. 566-569
|
artikel
|
| 4 |
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin
|
Sagath, Lydia
|
|
|
31 |
6 |
p. 539-545
|
artikel
|
| 5 |
Editorial Board
|
|
|
|
31 |
6 |
p. IFC
|
artikel
|
| 6 |
Efficacy and safety of tacrolimus as long-term monotherapy for myasthenia gravis
|
Itani, Kumi
|
|
|
31 |
6 |
p. 512-518
|
artikel
|
| 7 |
Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay
|
Cao, Yanyan
|
|
|
31 |
6 |
p. 519-527
|
artikel
|
| 8 |
GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease
|
Figueiredo, Fernanda Barbosa
|
|
|
31 |
6 |
p. 505-511
|
artikel
|
| 9 |
Motor unit number index (MUNIX) in children and adults with 5q-spinal muscular atrophy: Variability and clinical correlations
|
Mendonça, Rodrigo Holanda
|
|
|
31 |
6 |
p. 498-504
|
artikel
|
| 10 |
Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency
|
Cotta, Ana
|
|
|
31 |
6 |
p. 551-557
|
artikel
|
| 11 |
Myasthenia gravis with inflammatory myopathy without elevation of creatine kinase
|
Kanbayashi, Takamichi
|
|
|
31 |
6 |
p. 570-573
|
artikel
|
| 12 |
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
|
Dangouloff, Tamara
|
|
|
31 |
6 |
p. 574-582
|
artikel
|
| 13 |
Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient
|
Petrucci, Antonio
|
|
|
31 |
6 |
p. 532-538
|
artikel
|
| 14 |
Over three decades of natural history of limb girdle muscular dystrophy type R1/2A and R2/2B: Mathematical modelling of a multifactorial study
|
LoMauro, Antonella
|
|
|
31 |
6 |
p. 489-497
|
artikel
|
| 15 |
Ranolazine-induced lipid storage myopathy presenting with respiratory failure and head drop
|
Paul, Pritikanta
|
|
|
31 |
6 |
p. 546-550
|
artikel
|
| 16 |
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy
|
Brogna, Claudia
|
|
|
31 |
6 |
p. 479-488
|
artikel
|
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