Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG55
Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review.
Perrone E et al.
Genetics and Molecular Biology, 2020
32478789 (PubMed )
Supplement: 1415-4757-GMB-43-2-e20180271-s1.pdf
Compound Heterozygote Mutation of C12orf65 Causes Distal Motor Neuropathy and Optic Atrophy.
Fang XJ et al.
Chinese Medical Journal, 2017
Select a paper to view details