Associated Papers
Sex-specific and age-related progression of auditory neurophysiological deficits in the Cln3 mouse model of Batten disease.
Ding Y et al.
Journal of Neurodevelopmental Disorders, 2025
Neuronal Ceroid Lipofuscinosis-Concepts, Classification, and Avenues for Therapy.
Zhang Y et al.
Cns Neuroscience & Therapeutics, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
CLN3 deficiency leads to neurological and metabolic perturbations during early development.
Heins-Marroquin U et al.
Life Science Alliance, 2024
Sortilin inhibition treats multiple neurodegenerative lysosomal storage disorders.
Leppert HG et al.
Biorxiv : the Preprint Server for Biology, 2023
Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.
Sakti DH et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2023
Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease identified with miniswine model.
Knoernschild K et al.
Scientific Reports, 2023
Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons.
Chear S et al.
Disease Models & Mechanisms, 2022
A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes.
Swier VJ et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2022
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
A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses.
Gilani N et al.
Acta Neurologica Belgica, 2021
Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity.
Kuper WFE et al.
Jimd Reports, 2020
A tailored Cln3Q352X mouse model for testing therapeutic interventions in CLN3 Batten disease.
Langin L et al.
Scientific Reports, 2020
Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis.
Gomez-Giro G et al.
Acta Neuropathologica Communications, 2019
Timing of cognitive decline in CLN3 disease.
Kuper WFE et al.
Journal of Inherited Metabolic Disease, 2018
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
Miller JN et al.
Human Molecular Genetics, 2013
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
Sarpong A et al.
Clinical Genetics, 2009
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