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Article

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.

Biochimica et biophysica acta - 1 Nov 2013

Kmoch Stanislav, Stránecký Viktor, Emes Richard D, Mitchison Hannah M

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are a group of rare genetic diseases characterised clinically by the progressive deterioration of mental, motor and visual functions and histopathologically by the intracellular accumulation of autofluorescent lipopigment - ceroid - in affected tissues. The NCLs are clinically and genetically heterogeneous and more than 14 genetically distinct NCL subtypes have been...

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Source

Identifiers

PMID: 23274885
DOI: 10.1016/j.bbadis.2012.12.010

Genes

NCL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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