Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG12
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Maroofian R et al.
Brain : a Journal of Neurology, 2024
38527963 (PubMed )
Supplement: awae091_supplementary_data.zip › brain-2023-01753-File007.xlsx › Table_of_Variants
New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.
Tian W et al.
Annals of Clinical and Translational Neurology, 2022
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
Montenegro G et al.
The Journal of Clinical Investigation, 2012
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