scholarly article | Q13442814 |
P356 | DOI | 10.1007/978-3-319-17121-0_23 |
P698 | PubMed publication ID | 26427408 |
P50 | author | Samuel G. Jacobson | Q42410256 |
P2093 | author name string | Artur V Cideciyan | |
Sharon B Schwartz | |||
Alexander Sumaroka | |||
Wei Chieh Huang | |||
Rebecca Sheplock | |||
Hyun Ju Nam | |||
P2860 | cites work | Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants | Q36709692 |
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions | Q37652856 | ||
Treatment possibilities for retinitis pigmentosa | Q42852876 | ||
Leber congenital amaurosis: from darkness to spotlight | Q45880092 | ||
Retinal optogenetic therapies: clinical criteria for candidacy | Q45886746 | ||
Histopathology of the human retina in retinitis pigmentosa | Q77057686 | ||
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination | Q28191585 | ||
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success | Q33771032 | ||
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis | Q33845544 | ||
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy | Q33992484 | ||
Leber congenital amaurosis: genes, proteins and disease mechanisms | Q34796759 | ||
Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model | Q35221208 | ||
Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families | Q35591700 | ||
TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones | Q36086392 | ||
Reduction of all-trans-retinal in vertebrate rod photoreceptors requires the combined action of RDH8 and RDH12. | Q36098059 | ||
P407 | language of work or name | English | Q1860 |
P921 | main subject | Leber congenital amaurosis | Q1811132 |
P304 | page(s) | 169-175 | |
P577 | publication date | 2016-01-01 | |
P1433 | published in | Advances in Experimental Medicine and Biology | Q4686385 |
P1476 | title | Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes | |
P478 | volume | 854 |
Q36079288 | Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population |
Q90399579 | Generation and Characterization of Induced Pluripotent Stem Cells and Retinal Organoids From a Leber's Congenital Amaurosis Patient With Novel RPE65 Mutations |
Q41362538 | In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations. |
Q90152961 | Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision |
Q38558467 | Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee |
Q32186770 | Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells. |
Q92850956 | Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence |
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