Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG8
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM14_ESM.xlsx › Sheet1
Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient.
Gao SY et al.
Frontiers in Genetics, 2023
38028608 (PubMed )
Supplement: DataSheet1.XLSX › Sheet1
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.
Maddirevula S et al.
Frontiers in Genetics, 2020
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