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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.
Tian W et al.
Annals of Clinical and Translational Neurology, 2022
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V et al.
European Journal of Human Genetics : Ejhg, 2022
34697415 (PubMed )
Supplement: 41431_2021_964_MOESM3_ESM.xlsx › Table_S1
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
van de Warrenburg BP et al.
European Journal of Human Genetics : Ejhg, 2016
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