Leber congenital amaurosis: Genes, proteins and disease mechanisms
Top Cited Papers
- 31 July 2008
- journal article
- review article
- Published by Elsevier BV in Progress in Retinal and Eye Research
- Vol. 27 (4), 391-419
- https://doi.org/10.1016/j.preteyeres.2008.05.003
Abstract
No abstract availableKeywords
This publication has 268 references indexed in Scilit:
- Safety and Efficacy of Gene Transfer for Leber's Congenital AmaurosisThe New England Journal of Medicine, 2008
- Effect of Gene Therapy on Visual Function in Leber's Congenital AmaurosisThe New England Journal of Medicine, 2008
- Retinal degeneration in children: Dark adapted visual threshold and arteriolar diameterVision Research, 2008
- Leber Congenital Amaurosis–A Model for Efficient Genetic Testing of Heterogeneous Disorders: LXIV Edward Jackson Memorial LectureAmerican Journal of Ophthalmology, 2007
- Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neuronsProceedings of the National Academy of Sciences of the United States of America, 2007
- Human cone photoreceptor dependence on RPE65 isomeraseProceedings of the National Academy of Sciences of the United States of America, 2007
- Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: Biochemical and clinical evaluationsVision Research, 2007
- Role of LRAT on the Retinoid Isomerase Activity and Membrane Association of Rpe65Online Journal of Public Health Informatics, 2007
- The ciliary proteome database: an integrated community resource for the genetic and functional dissection of ciliaNature Genetics, 2006
- Proteomic characterization of the human centrosome by protein correlation profilingNature, 2003