Disease: Pelizaeus-Merzbacher-like disease- autosomal recessive- 2
- A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease
- A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder
- An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
- Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease
- Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)
- Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form
- Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model
- GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease
- Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum
- Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease
- Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease
- New mutation of pelizaeus--merzbacher-like disease; a report from iran
- Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders
- Pelizaeus-Merzbacher-Like Disease 1
- Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report
- The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions