Subject Areas on Research
- A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy.
- Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.
- Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
- Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis.
- Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.
- Severe Leber Hereditary Optic Neuropathy Plus Disease in a Middle-Aged Man.