Search results: Sage Journals

Restricted accessResearch articleFirst published September, 2013

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 accessResearch articleFirst published May, 2026

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 accessBrief reportFirst 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

Restricted accessResearch articleFirst published 2026

Mania in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 Disease): A Rare Neuropsychiatric Presentation in an Adolescent

Ekin Sut, Duygu Nur Tutam

Journal of Child Neurology

Restricted accessOtherFirst published January, 2004

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

Restricted accessResearch articleFirst published July, 2020

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 accessResearch articleFirst published May, 2024

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

Restricted accessResearch articleFirst published October, 2016

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

Restricted accessResearch articleFirst published March, 2014

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

Restricted accessResearch articleFirst published February, 2018

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

Restricted accessResearch articleFirst published September, 2013

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 accessResearch articleFirst published May, 2026

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 accessBrief reportFirst 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

Restricted accessResearch articleFirst published 2026

Mania in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 Disease): A Rare Neuropsychiatric Presentation in an Adolescent

Ekin Sut, Duygu Nur Tutam

Journal of Child Neurology

Restricted accessOtherFirst published January, 2004

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

Restricted accessResearch articleFirst published July, 2020

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 accessResearch articleFirst published May, 2024

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

Restricted accessResearch articleFirst published October, 2016

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

Restricted accessResearch articleFirst published March, 2014

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

Restricted accessResearch articleFirst published February, 2018

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