Lipid alterations in hereditary peripheral neuropathies : common mechanisms in disease heterogeneity?
Source
Molecular neurodegeneration - ISSN 1750-1326-21:1 (2026) p. 1-19
Charcot-Marie-Tooth disease and related neuropathies
Source
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
Source
Brain - ISSN 0006-8950-149:1 (2026) p. 178-193
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy
Source
European journal of human genetics - ISSN 1018-4813-34 (2026) p. 45-52
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Source
The journal of clinical investigation - ISSN 0021-9738-135:23 (2025) p. 1-20