Contracturing granulomatous myositis in a patient with rheumatoid arthritis : a case report
Source
Neuromuscular disorders - ISSN 0960-8966-36 (2024) p. 38-41
Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1 -associated diseases
Source
Brain communications - ISSN 2632-1297-6:2 (2024) p. 1-9
A homozygous loss of function variant in POPDC3 : from invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype
Source
Neuromuscular disorders - ISSN 0960-8966-33:5 (2023) p. 432-439
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
Source
Journal of neurology - ISSN 0340-5354-270 (2023) p. 5849-5865
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Source
Genetics in medicine - ISSN 1098-3600-25:4 (2023) p. 1-15