Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG2
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
Ji H et al.
Plos One, 2018
29451896 (PubMed )
Supplement: pone.0188869.s005.xlsx › _S5_Table
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.
Hübner CA et al.
Human Mutation, 2005
Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA.
Hübner CA et al.
Neuroscience, 2005
Select a paper to view details