Associated Papers
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
Drug screening for Pelizaeus-Merzbacher disease by quantifying the total levels and membrane localization of PLP1.
Kouga T et al.
Molecular Genetics and Metabolism Reports, 2019
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
Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy.
Torii T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
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