Associated Papers
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
Griffith J et al.
Genes, 2022
36011402 (PubMed )
Supplement: genes-13-01490-s001.zip › Table_S1.xlsx › Supplemental_Table_S1
Glycerophosphoinositol is Elevated in Blood Samples From CLN3 Δex7-8 pigs, Cln3 Δex7-8 Mice, and CLN3-Affected Individuals.
Brudvig JJ et al.
Biomarker Insights, 2022
36212622 (PubMed )
Supplement: sj-xlsx-3-bmi-10.1177_11772719221107765.xlsx › Patient-Level_Plasma_Data
Timing of cognitive decline in CLN3 disease.
Kuper WFE et al.
Journal of Inherited Metabolic Disease, 2018
29392585 (PubMed )
Supplement: 10545_2018_143_MOESM1_ESM.docx
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
Pérez-Poyato MS et al.
Journal of Inherited Metabolic Disease, 2011
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
Sarpong A et al.
Clinical Genetics, 2009
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.
Kitzmüller C et al.
Human Molecular Genetics, 2008
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
Mole SE et al.
Human Mutation, 1999
Select a paper to view details