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
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
Spiegel R et al.
European Journal of Human Genetics : Ejhg, 2014
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