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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

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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

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Research article

First published 2011-7

Changes in the expression of telomere maintenance genes might play a role in the pathogenesis of systemic lupus erythematosus

JG Zhou, YF Qing, QB Yang [...]

Lupus

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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

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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®

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

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Research article

First published 2015-04

Inferring Genome-Wide Functional Modulatory Network: A Case Study on NF-κB/RelA Transcription Factor

Xueling Li, Min Zhu, Allan R. Brasier [...]

Journal of Computational Biology

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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

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Research article

First published 2012-04

Lack of Mutations of the Telomerase RNA Component in Familial Papillary Thyroid Cancer with Short Telomeres

Silvia Cantara, Serena Capuano, Marco Capezzone [...]

Thyroid®

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