| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype
|
De Ridder, Willem
|
|
|
33 |
5 |
p. 432-439
|
artikel
|
| 2 |
Amyloid-like IgM deposition neuropathy with multiple mononeuropathies and generalized neuropathy
|
Soontrapa, Pannathat
|
|
|
33 |
5 |
p. 391-395
|
artikel
|
| 3 |
A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology
|
Kadhim, Hazim
|
|
|
33 |
5 |
p. 410-416
|
artikel
|
| 4 |
Assessment of the burden of outpatient clinic and MRI-guided needle muscle biopsies as reported by patients with facioscapulohumeral muscular dystrophy
|
Kools, Joost
|
|
|
33 |
5 |
p. 440-446
|
artikel
|
| 5 |
Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center
|
Ko, Young Jun
|
|
|
33 |
5 |
p. 425-431
|
artikel
|
| 6 |
Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study
|
Kwong, Anna KY
|
|
|
33 |
5 |
p. 371-381
|
artikel
|
| 7 |
Detecting impaired muscle relaxation in myopathies with the use of motor cortical stimulation
|
Molenaar, Joery P.
|
|
|
33 |
5 |
p. 396-404
|
artikel
|
| 8 |
Editorial Board
|
|
|
|
33 |
5 |
p. IFC
|
artikel
|
| 9 |
How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3
|
Verebi, Camille
|
|
|
33 |
5 |
p. 367-370
|
artikel
|
| 10 |
Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy
|
Bai, Jinli
|
|
|
33 |
5 |
p. 382-390
|
artikel
|
| 11 |
Outcomes after robotic thymectomy in nonthymomatous versus thymomatous patients with acetylcholine-receptor-antibody-associated myasthenia gravis
|
Marcuse, Florit
|
|
|
33 |
5 |
p. 417-424
|
artikel
|
| 12 |
Overlap syndrome with antibodies against multiple transfer-RNA components presenting antisynthetase syndrome
|
Motegi, Haruhiko
|
|
|
33 |
5 |
p. 405-409
|
artikel
|
| 13 |
268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials
|
Montagnese, Federica
|
|
|
33 |
5 |
p. 447-462
|
artikel
|
| 14 |
WMS 2023 Congress announcement
|
|
|
|
33 |
5 |
p. III
|
artikel
|
| 15 |
WMS 2023 Flyer
|
|
|
|
33 |
5 |
p. II
|
artikel
|
| 16 |
WMS Information
|
|
|
|
33 |
5 |
p. I
|
artikel
|
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