Associated Papers
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 2025
40571344 (PubMed )
Supplement: bjo-109-8-s002.xlsx › P_or_LP_variants_
Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review.
Parshina OP et al.
Frontiers in Medicine, 2025
A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.
Basak I et al.
Cellular and Molecular Life Sciences : Cmls, 2021
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