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
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
Lyahyai J et al.
Bmc Pediatrics, 2018
A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease.
Lu Y et al.
Human Genome Variation, 2017
Pelizaeus-Merzbacher disease as a chromosomal disorder.
Yamamoto T et al.
Congenital Anomalies, 2013
Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.
Shimojima K et al.
Brain & Development, 2010
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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