Charcot-Marie-Tooth disease and related neuropathies
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Nature reviews disease primers - ISSN 2056-676X-12:1 (2026) p. 1-20
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
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Brain - ISSN 0006-8950-149:1 (2026) p. 178-193
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy
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European journal of human genetics - ISSN 1018-4813-34 (2026) p. 45-52
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
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The journal of clinical investigation - ISSN 0021-9738-135:23 (2025) p. 1-20
Untargeted metabolomics and lipidomics to study autophagy induction in mouse embryonic fibroblasts
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Analytical and bioanalytical chemistry - ISSN 1618-2642- (2025) p.