scholarly article | Q13442814 |
P356 | DOI | 10.1177/08830738040190010703 |
P698 | PubMed publication ID | 15032383 |
P2093 | author name string | Robert E Mrak | |
Michael Brodsky | |||
Stephen Bates | |||
Charles Glasier | |||
Paul Phillips | |||
Emily de los Reyes | |||
Paul Richard Dyken | |||
P2860 | cites work | Batten's disease: clues to neuronal protein catabolism in lysosomes | Q22253405 |
Spectrum of mutations in the Batten disease gene, CLN3 | Q24678552 | ||
Pheno/genotypic correlations of neuronal ceroid lipofuscinoses | Q34363293 | ||
New mutations in the neuronal ceroid lipofuscinosis genes. | Q34393299 | ||
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. | Q37383913 | ||
The protracted form of juvenile neuronal ceroid-lipofuscinosis | Q40045109 | ||
Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis | Q48290463 | ||
Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations. | Q52178120 | ||
Isolation of a novel gene underlying batten disease, CLN3 | Q56804260 | ||
P433 | issue | 1 | |
P304 | page(s) | 42-46 | |
P577 | publication date | 2004-01-01 | |
P1433 | published in | Journal of Child Neurology | Q6294935 |
P1476 | title | Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect | |
P478 | volume | 19 |
Q90298722 | CRISPR-Cas9-Mediated Correction of the 1.02 kb Common Deletion in CLN3 in Induced Pluripotent Stem Cells from Patients with Batten Disease |
Q34427575 | Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses |
Q37524944 | Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye. |
Q90377163 | The CLN3 gene and protein: What we know |
Q37944570 | Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses |
Q41643417 | Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration |
Q35768469 | Using Stem Cells to Model Diseases of the Outer Retina |
Search more.