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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

Retricted access

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

Retricted access

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 2019-10

A novel,hybrid,single- and multi-site clinical trial design for CLN3 disease,an ultra-rare lysosomal storage disorder

Heather R Adams, Sara Defendorf, Amy Vierhile [...]

Clinical Trials

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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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 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 2016-3

Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)

Shayne N. Ragbeer, Erika F. Augustine, Jonathan W. Mink [...]

Journal of Child Neurology

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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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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

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