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.
Monoallelic POLR3A variants cause early-onset peripheral neuropathy
Source
Annals of neurology - ISSN 0364-5134-100:3 (2026) p. 655-671
Delineating the genetic landscape of Charcot–Marie–tooth disease in Türkiye : distinct distribution, rare phenotypes, and novel variants
Source
European journal of neurology - ISSN 1351-5101-32:1 (2025) p. 1-12
Identification and characterization of novel founder mutations in NDRG1 : refining the genetic landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria
Source
International journal of molecular sciences - ISSN 1422-0067-25:16 (2024) p. 1-13