Associated Papers
Long-Term Open-Label Study Evaluating Oral Miglustat Treatment in Patients With Neuronal Ceroid Lipofuscinosis Type 3.
Pietrafusa N et al.
Neurology, 2025
Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.
Refeat MM et al.
Neurogenetics, 2023
The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample.
Wibbeler E et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2022
Clinical implementation of gene panel testing for lysosomal storage diseases.
Gheldof A et al.
Molecular Genetics & Genomic Medicine, 2019
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
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
28749477 (PubMed )
Supplement: gim201797x2.xlsx › Sheet1
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
Santorelli FM et al.
Orphanet Journal of Rare Diseases, 2013
23374165 (PubMed )
Supplement: 1750-1172-8-19-S1.xls › Foglio1
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
Founder mutations among the Dutch.
Zeegers MP et al.
European Journal of Human Genetics : Ejhg, 2004
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
Mole SE et al.
Human Mutation, 1999
Spectrum of mutations in the Batten disease gene, CLN3.
Munroe PB et al.
American Journal of Human Genetics, 1997
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