Associated Papers
Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis.
Ozkose GS et al.
Clinical Genetics, 2026
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG62
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.
Cogan G et al.
Human Genetics, 2024
ERLIN1/2 scaffolds bridge TMUB1 and RNF170 and restrict cholesterol esterification to regulate the secretory pathway.
Veronese M et al.
Life Science Alliance, 2024
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