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
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
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.
Scala M et al.
Neuropediatrics, 2019
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
A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease.
Lu Y et al.
Human Genome Variation, 2017
28101371 (PubMed )
Supplement: hgv201644-s1.doc
Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations.
Laukka JJ et al.
Journal of Neuroscience Research, 2014
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
Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.
Fattal-Valevski A et al.
Journal of Child Neurology, 2009
Inactive S298R disassembles the dodecameric L-aspartate 4-decarboxylase into dimers.
Wang NC et al.
Biochemical and Biophysical Research Communications, 2008
Symptomatic Female Spastic Paraplegia Patient with a Novel Heterozygous Variant of the PLP1 Gene.
Kim AR et al.
Annals of Indian Academy of Neurology, 0
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