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Open access

Research article

First published 2019

Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model

Miriam S. Domowicz, Wen-Ching Chan, Patricia Claudio-Vázquez [...]

ASN Neuro

Open access

Research article

First published 2018

An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease

Kathleen W. Wyrwich, Angela Schulz, Miriam Nickel [...]

Journal of Inborn Errors of Metabolism and Screening

Retricted access

Research article

First published 2013-4

Late Infantile Neuronal Ceroid Lipofuscinosis

María S. Pérez-Poyato, Mercé Pineda Marfa, Isidre Ferrer Abizanda [...]

Journal of Child Neurology

Retricted access

Case report

First published 2020-11

Autism,Epilepsy,and Neuroregression: Photosensitivity on Electroencephalography Solved the Riddle

Priyanka Madaan, Prashant Jauhari, Zulfiqar M. Luhar [...]

Clinical EEG and Neuroscience

Retricted access

Review article

First published 2020-4

Review of Cerliponase Alfa: Recombinant Human Enzyme Replacement Therapy for Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2

Grace Lewis, Amanda M. Morrill, Stephanie L. Conway-Allen [...]

Journal of Child Neurology

Retricted access

Case report

First published 2025-1

Clinical,Pathological,and Molecular Findings in a Mexican Patient With Neuronal Ceroid Lipofuscinosis Type 2: Support for Pathogenicity of the c.1226 G>T Variant and for Presence of Cherry-Red Spot in This Disease

Celso Tomás Corcuera-Delgado, Alfonso Gilberto Ramírez-Ristori, Estela Pérez-Muñoz [...]

Pediatric and Developmental Pathology

Retricted access

Review article

First published 2026-3

Treatment of Neuronal Ceroid Lipofuscinosis Type 2 with Cerliponase Alfa: A Systematic Review and Single-Arm Meta-Analysis of Two Studies

Juliana Almeida Oliveira, Muhammad Nabeel Saddique, Maria Qadri [...]

Journal of Child Neurology

Retricted access

Research article

First published 2013-03

Telomere Length Is Shorter in Affected Members of Families with Familial Nonmedullary Thyroid Cancer

Mei He, Brent Bian, Krisana Gesuwan [...]

Thyroid®

Retricted access

Research article

First published 2023-09

Assessment of Safety and Biodistribution of AAVrh.10hCLN2 Following Intracisternal Administration in Nonhuman Primates for the Treatment of CLN2 Batten Disease

Bishnu P. De, Jonathan B. Rosenberg, Nithya Selvan [...]

Human Gene Therapy

Retricted access

Research article

First published 2025-01

Twenty-Year Survival Analysis of Adeno-Associated Virus Vector Serotype 2-Mediated Gene Therapy to the Central Nervous System for CLN2 Disease

Dolan Sondhi, Stephen M. Kaminsky, Jonathan B. Rosenberg [...]

Human Gene Therapy

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