Associated Papers
Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses.
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Developmental Medicine and Child Neurology, 2026
40708162 (PubMed )
Supplement: DMCN-68-276-s003.xlsx › Foglio1
Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.
Hu J et al.
Bmc Medical Genomics, 2025
Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.
Thuppanattumadam Ananthasubramanian S et al.
Journal of the Neurological Sciences, 2025
Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review.
Parshina OP et al.
Frontiers in Medicine, 2025
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
Paiva ARB et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2023
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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