Associated Papers
Non-synonymous single nucleotide polymorphisms (nsSNPs) within the extracellular domains of the GPM6A gene impair hippocampal neuron development.
León A et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2025
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
Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy.
Torii T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
Cailloux F et al.
European Journal of Human Genetics : Ejhg, 2000
Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.
Mimault C et al.
American Journal of Human Genetics, 1999
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