| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Characterizing cognitive-motor impairments in patients with myotonic dystrophy type 1
|
Filli, Linard
|
|
|
30 |
6 |
p. 510-520
|
artikel
|
| 2 |
Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients’ cohort from Qatar. A population specific founder variant
|
Abdel Aleem, Alice
|
|
|
30 |
6 |
p. 457-471
|
artikel
|
| 3 |
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity
|
Stavusis, Janis
|
|
|
30 |
6 |
p. 483-491
|
artikel
|
| 4 |
Combining genetics, neuropsychology and neuroimaging to improve understanding of brain involvement in Duchenne muscular dystrophy - a narrative review
|
Doorenweerd, Nathalie
|
|
|
30 |
6 |
p. 437-442
|
artikel
|
| 5 |
Early pathological signs in young dysf−/− mice are improved by halofuginone
|
Barzilai-Tutsch, Hila
|
|
|
30 |
6 |
p. 472-482
|
artikel
|
| 6 |
Editorial Board
|
|
|
|
30 |
6 |
p. IFC
|
artikel
|
| 7 |
Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy
|
Storey, Emily C
|
|
|
30 |
6 |
p. 443-456
|
artikel
|
| 8 |
Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy
|
Wagner, Kathryn R.
|
|
|
30 |
6 |
p. 492-502
|
artikel
|
| 9 |
Spontaneous symptomatic improvement in a pediatric patient with anti-3-hydroxy-3-methylglutraryl-coenzyme A reductase myopathy
|
Suárez, Bernardita
|
|
|
30 |
6 |
p. 503-509
|
artikel
|
| 10 |
248th ENMC International Workshop: Myotonic dystrophies: Molecular approaches for clinical purposes, framing a European molecular research network, Hoofddorp, the Netherlands, 11–13 October 2019
|
Wansink, Derick G.
|
|
|
30 |
6 |
p. 521-531
|
artikel
|
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