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Research article

First published 2013-9

A Novel c.1135_1138delCTGT Mutation in CLN3 Leads to Juvenile Neuronal Ceroid Lipofuscinosis

Arlene V. Drack, Jake N. Miller, David A. Pearce

Journal of Child Neurology

Open access

Research article

First published 2025

Visual Recovery and Neurological Stabilization Following Miglustat Treatment in Pediatric CLN3 Disease

Alice E. Dutton, Ineka T. Whiteman, Michael M. Jones [...]

Journal of Child Neurology

Open access

Brief report

First published 2022

Glycerophosphoinositol is Elevated in Blood Samples From CLN3 Δex7-8 pigs,Cln3 Δex7-8 Mice,and CLN3-Affected Individuals

Jon J Brudvig, Vicki J Swier, Tyler B Johnson [...]

Biomarker Insights

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Other

First published 2004-1

Profound Infantile Neuroretinal Dysfunction in a Heterozygote for the CLN3 Genetic Defect

Emily de los Reyes, Paul Richard Dyken, Paul Phillips [...]

Journal of Child Neurology

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Research article

First published 2020-07

Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease

Sophia-Martha kleine Holthaus, Mikel Aristorena, Ryea Maswood [...]

Human Gene Therapy

Free access

Research article

First published 2024-5

A recessive CLN3 variant is responsible for delayed-onset retinal degeneration in Hereford cattle

Rachel R. Reith, Mackenzie C. Batt, Anna M. Fuller [...]

Journal of Veterinary Diagnostic Investigation

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Research article

First published 2016-10

Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3 -Associated Retinal Degeneration

Luke A. Wiley, Erin R. Burnight, Arlene V. Drack [...]

Human Gene Therapy

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Research article

First published 2014-03

Partial Correction of the CNS Lysosomal Storage Defect in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis by Neonatal CNS Administration of an Adeno-Associated Virus Serotype rh.10 Vector Expressing the Human CLN3 Gene

Dolan Sondhi, Emma C. Scott, Alvin Chen [...]

Human Gene Therapy

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Research article

First published 2018-02

CRISPR-Cas9-Mediated Correction of the 1.02 kb Common Deletion in CLN3 in Induced Pluripotent Stem Cells from Patients with Batten Disease

Erin R. Burnight, Laura R. Bohrer, Joseph C. Giacalone [...]

The CRISPR Journal

Retricted access

Research article

First published 2017-7

ABCA4 Mutation in a Patient With Juvenile Neuronal Ceroid Lipofuscinosis

Daniela Reyes-Capó, Camila V. Ventura, Mustafa Tekin [...]

Journal of VitreoRetinal Diseases

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