Biallelic PIGB variants cause motor neuropathy with conduction blocks and eripheral nerve hyperexcitability
Source
Annals of neurology - ISSN 0364-5134- () p. 1-13
Spectrum of hereditary neuropathies in adult patients from Serbia
Source
Journal of the peripheral nervous system - ISSN 1085-9489-31:3 (2026) p.
Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopment
Source
Nature communications - ISSN 2041-1723-17:1 (2026) p.
Monoallelic POLR3A variants cause early-onset peripheral neuropathy
Source
Annals of neurology - ISSN 0364-5134-100:3 (2026) p. 655-671
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
Source
Brain - ISSN 0006-8950-149:1 (2026) p. 178-193