nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film
|
Cox, Daniel |
|
|
29 |
11 |
p. 874-880 |
artikel |
2 |
Clinical features of Pompe disease with motor neuronopathy
|
Tsai, Li-Kai |
|
|
29 |
11 |
p. 903-906 |
artikel |
3 |
De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure
|
Pechmann, Astrid |
|
|
29 |
11 |
p. 907-909 |
artikel |
4 |
Editorial Board
|
|
|
|
29 |
11 |
p. IFC |
artikel |
5 |
Fatigue in primary genetic mitochondrial disease: No rest for the weary
|
Parikh, Sumit |
|
|
29 |
11 |
p. 895-902 |
artikel |
6 |
Large in-frame 5′ deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature
|
Gibbs, Elizabeth M. |
|
|
29 |
11 |
p. 863-873 |
artikel |
7 |
Longitudinal natural history in young boys with Duchenne muscular dystrophy
|
Coratti, Giorgia |
|
|
29 |
11 |
p. 857-862 |
artikel |
8 |
Malignancy and myositis, from molecular mimicry to tumor infiltrating lymphocytes
|
Selva-O'Callaghan, Albert |
|
|
29 |
11 |
p. 819-825 |
artikel |
9 |
Measurement properties and utility of performance-based outcome measures of physical functioning in individuals with facioscapulohumeral dystrophy – A systematic review and evidence synthesis
|
de Valle, K. |
|
|
29 |
11 |
p. 881-894 |
artikel |
10 |
MYO-MRI diagnostic protocols in genetic myopathies
|
Warman Chardon, Jodi |
|
|
29 |
11 |
p. 827-841 |
artikel |
11 |
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
|
De Vivo, Darryl C. |
|
|
29 |
11 |
p. 842-856 |
artikel |
12 |
Predominant distal muscle involvement in spinal muscular atrophy
|
Brogna, C. |
|
|
29 |
11 |
p. 910-911 |
artikel |