| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Beneficial effect of tocilizumab in myasthenia gravis refractory to rituximab
|
Jonsson, Dagur Ingi
|
|
2017
|
27 |
6 |
p. 565-568
4 p.
|
article
|
| 2 |
Congenital myopathy with “corona” fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A
|
Gonorazky, Hernan D.
|
|
2017
|
27 |
6 |
p. 574-580
7 p.
|
article
|
| 3 |
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods
|
Donkervoort, Sandra
|
|
2017
|
27 |
6 |
p. 531-536
6 p.
|
article
|
| 4 |
Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions
|
Takeshita, Eri
|
|
2017
|
27 |
6 |
p. 569-573
5 p.
|
article
|
| 5 |
Editorial Board
|
|
|
2017
|
27 |
6 |
p. CO2-
1 p.
|
article
|
| 6 |
Experiences of being parents of young adults living with recessive limb-girdle muscular dystrophy from a salutogenic perspective
|
Aho, Anna Carin
|
|
2017
|
27 |
6 |
p. 585-595
11 p.
|
article
|
| 7 |
Inspiratory muscle training for children and adolescents with neuromuscular diseases: A systematic review
|
Human, Anri
|
|
2017
|
27 |
6 |
p. 503-517
15 p.
|
article
|
| 8 |
Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease
|
Sechi, Annalisa
|
|
2017
|
27 |
6 |
p. 542-549
8 p.
|
article
|
| 9 |
Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene
|
Abdalla, Ebtesam
|
|
2017
|
27 |
6 |
p. 537-541
5 p.
|
article
|
| 10 |
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome
|
Luo, Sushan
|
|
2017
|
27 |
6 |
p. 557-564
8 p.
|
article
|
| 11 |
Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy
|
Auranen, M.
|
|
2017
|
27 |
6 |
p. 581-584
4 p.
|
article
|
| 12 |
Respiratory function in facioscapulohumeral muscular dystrophy 1
|
Wohlgemuth, M.
|
|
2017
|
27 |
6 |
p. 526-530
5 p.
|
article
|
| 13 |
Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population
|
Lee, Jung Hwan
|
|
2017
|
27 |
6 |
p. 550-556
7 p.
|
article
|
| 14 |
218th ENMC International Workshop:
|
Finkel, Richard S.
|
|
2017
|
27 |
6 |
p. 596-605
10 p.
|
article
|
| 15 |
Twitch mouth pressure for detecting respiratory muscle weakness in suspicion of neuromuscular disorder
|
Santos, Dante Brasil
|
|
2017
|
27 |
6 |
p. 518-525
8 p.
|
article
|
Journal description