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                             16 results found
no title author magazine year volume issue page(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
article
2 Amyloid-like IgM deposition neuropathy with multiple mononeuropathies and generalized neuropathy Soontrapa, Pannathat

33 5 p. 391-395
article
3 A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology Kadhim, Hazim

33 5 p. 410-416
article
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
article
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
article
6 Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study Kwong, Anna KY

33 5 p. 371-381
article
7 Detecting impaired muscle relaxation in myopathies with the use of motor cortical stimulation Molenaar, Joery P.

33 5 p. 396-404
article
8 Editorial Board
33 5 p. IFC
article
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
article
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
article
11 Outcomes after robotic thymectomy in nonthymomatous versus thymomatous patients with acetylcholine-receptor-antibody-associated myasthenia gravis Marcuse, Florit

33 5 p. 417-424
article
12 Overlap syndrome with antibodies against multiple transfer-RNA components presenting antisynthetase syndrome Motegi, Haruhiko

33 5 p. 405-409
article
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
article
14 WMS 2023 Congress announcement
33 5 p. III
article
15 WMS 2023 Flyer
33 5 p. II
article
16 WMS Information
33 5 p. I
article
                             16 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands