Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Source
Nature medicine - ISSN 1078-8956-31 (2025) p. 478-489
RNA interference targeting small heat shock protein B8 failed to improve distal hereditary motor neuropathy in the mouse model
Source
Journal of gene medicine - ISSN 1099-498X-27:2 (2025) p. 1-18
TBP repeat expansion analysis in patients carrying heterozygous STUB1 variants
Source
Movement disorders: video, videotape supplements - ISSN 0885-3185- (2025) p.
Targeting autophagy deficits caused by small Heat Shock Protein mutations in Charcot-Marie-Tooth neuropathies
Source
Antwerpen, Universiteit Antwerpen, Faculteit Farmaceutische, Biomedische en Diergeneeskundige Wetenschappen, 2025,250 p.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
Source
Npj genomic medicine - ISSN 2056-7944-9:1 (2024) p. 1-24