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
PLP1 gene mutations cause spastic paraplegia type 2 in three families.
Yao L et al.
Annals of Clinical and Translational Neurology, 2023
Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.
Duan R et al.
Orphanet Journal of Rare Diseases, 2022
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
Ji H et al.
Plos One, 2018
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
Biancheri R et al.
Clinical Genetics, 2014
Insertion of mutant proteolipid protein results in missorting of myelin proteins.
Vaurs-Barriere C et al.
Annals of Neurology, 2003
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