Associated Papers
Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics.
Teker B et al.
International Journal of Molecular Sciences, 2025
The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.
Yu M et al.
International Journal of Molecular Sciences, 2025
An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy.
Thompson DA et al.
Eye (london, England), 2021
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Gardner E et al.
Human Mutation, 2019
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES et al.
Brain : a Journal of Neurology, 2016
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