Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
Bron
- (2024) p.
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
Bron
Genetics in medicine - ISSN 1098-3600-26:6 (2024) p. 1-14
In-depth characterization of HINT1 pathogenic variants
Bron
- (2023) p.
HINT1 neuropathy in Lithuania : clinical, genetic, and functional profiling
Bron
Orphanet journal of rare diseases - ISSN 1750-1172-17:1 (2022) p. 1-11
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America : a case report
Bron
Molecular genetics & genomic medicine - ISSN 2324-9269-9:10 (2021) p.