Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG2
Microglia-mediated demyelination protects against CD8+ T cell-driven axon degeneration in mice carrying PLP defects.
Groh J et al.
Nature Communications, 2023
Cytotoxic CNS-associated T cells drive axon degeneration by targeting perturbed oligodendrocytes in PLP1 mutant mice.
Abdelwahab T et al.
Iscience, 2023
In Silico Structural Analysis Predicting the Pathogenicity of PLP1 Mutations in Multiple Sclerosis.
Avramouli A et al.
Brain Sciences, 2022
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM2_ESM.xlsx › S2
A Comprehensive Survey of Genomic Alterations in Gastric Cancer Reveals Recurrent Neoantigens as Potential Therapeutic Targets.
Chen C et al.
Biomed Research International, 2019
31781598 (PubMed )
Supplement: 2183510.f1.zip › 2183510.f1 › Supplementary_Table_S3.xlsx › Supplementary_Table_S2.xlsx
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
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
Pathogenic inflammation in the CNS of mice carrying human PLP1 mutations.
Groh J et al.
Human Molecular Genetics, 2016
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
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
Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation.
Gorman MP et al.
Neurology, 2007
PLP1 alternative splicing in differentiating oligodendrocytes: characterization of an exonic splicing enhancer.
Wang E et al.
Journal of Cellular Biochemistry, 2006
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