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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
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Journal of gene medicine - ISSN 1099-498X-27:2 (2025) p. 1-18
TBP repeat expansion analysis in patients carrying heterozygous STUB1 variants
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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
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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
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Npj genomic medicine - ISSN 2056-7944-9:1 (2024) p. 1-24