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
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
A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease.
Fukumura S et al.
Brain & Development, 2011
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.
Grossi S et al.
Orphanet Journal of Rare Diseases, 2011
[Auditory brainstem response, CT and MR imaging in a family with classical type Pelizaeus-Merzbacher disease].
Shiomi M et al.
No to Hattatsu = Brain and Development, 1987
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