Associated Papers
The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.
Parvin S et al.
Neuromolecular Medicine, 2019
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.
Sanchez RL et al.
American Journal of Ophthalmology Case Reports, 2016
29503925 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
Katata Y et al.
Brain & Development, 2016
Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation.
Mahajnah M et al.
Pediatric Neurology, 2012
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
Reinhardt K et al.
Clinical Genetics, 2010
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