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
Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.
Nevin ZS et al.
American Journal of Human Genetics, 2017
Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease.
Laukka JJ et al.
Journal of the Neurological Sciences, 2013
PLP1 gene analysis in 88 patients with leukodystrophy.
Martínez-Montero P et al.
Clinical Genetics, 2013
Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA.
Hübner CA et al.
Neuroscience, 2005
Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.
Shy ME et al.
Annals of Neurology, 2003
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