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
Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS.
Tantzer S et al.
Molecular Therapy. Nucleic Acids, 2018
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
Ji H et al.
Plos One, 2018
29451896 (PubMed )
Supplement: pone.0188869.s005.xlsx › _S5_Table
Altered PLP1 splicing causes hypomyelination of early myelinating structures.
Kevelam SH et al.
Annals of Clinical and Translational Neurology, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.
Regis S et al.
Plos One, 2013
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
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