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Identification of small-molecule autophagy activators via GFP-LC3 high-throughput screening and a cargo-based autophagy flux and processing assay
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GMPPB‐CDG results in lysosomal dysfunction and acid alpha‐glucosidase deficiency
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Journal of inherited metabolic disease - ISSN 0141-8955-49:1 (2026) p. 1-14
Lipid alterations in hereditary peripheral neuropathies : common mechanisms in disease heterogeneity?
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Charcot-Marie-Tooth disease and related neuropathies
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