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
Brain Diffusion Imaging and Tractography to Distinguish Clinical Severity of Human PLP1-Related Disorders.
Sarret C et al.
Developmental Neuroscience, 2018
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
Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders.
Sarret C et al.
Developmental Medicine and Child Neurology, 2016
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