Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect

scientific article published in January 2004

Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1177/08830738040190010703
P698PubMed publication ID15032383

P2093author name stringRobert E Mrak
Michael Brodsky
Stephen Bates
Charles Glasier
Paul Phillips
Emily de los Reyes
Paul Richard Dyken
P2860cites workBatten's disease: clues to neuronal protein catabolism in lysosomesQ22253405
Spectrum of mutations in the Batten disease gene, CLN3Q24678552
Pheno/genotypic correlations of neuronal ceroid lipofuscinosesQ34363293
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-lipofuscinosisQ40045109
Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosisQ48290463
Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.Q52178120
Isolation of a novel gene underlying batten disease, CLN3Q56804260
P433issue1
P304page(s)42-46
P577publication date2004-01-01
P1433published inJournal of Child NeurologyQ6294935
P1476titleProfound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect
P478volume19

Reverse relations

cites work (P2860)
Q90298722CRISPR-Cas9-Mediated Correction of the 1.02 kb Common Deletion in CLN3 in Induced Pluripotent Stem Cells from Patients with Batten Disease
Q34427575Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
Q37524944Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye.
Q90377163The CLN3 gene and protein: What we know
Q37944570Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses
Q41643417Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration
Q35768469Using Stem Cells to Model Diseases of the Outer Retina

Search more.