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
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
Ji H et al.
Plos One, 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
Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease.
Xie H et al.
Brain & Development, 2015
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
Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.
Wang JM et al.
Chinese Medical Journal, 2008
Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.
Hübner CA et al.
Human Mutation, 2005
Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.
Mukherji M et al.
Human Molecular Genetics, 2001
X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations.
Woodward K et al.
European Journal of Human Genetics : Ejhg, 2000
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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