Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG42
Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.
Mao F et al.
Human Mutation, 2015
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
Huppke P et al.
American Journal of Human Genetics, 2012
Shared and unique components of human population structure and genome-wide signals of positive selection in South Asia.
Metspalu M et al.
American Journal of Human Genetics, 2011
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