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
Spectrinopathies in rare neurological and neuromuscular diseases : large-scale efforts towards the identification of novel molecular causes
Bron
Antwerpen, Universiteit Antwerpen, Faculteit Geneeskunde en Gezondheidswetenschappen, 2024,105 p.
Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias
Bron
Trends in neurosciences - ISSN 1878-108X-47:3 (2024) p. 227-238
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
Bron
Human genetics and genomics advances - ISSN 2666-2477-4:2 (2023) p. 1-19