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Article

Neuronal ceroid lipofuscinosis: detection of atypical forms.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jan 2000

Nardocci N, Morbin M, Bugiani M, Lamantea E, Bugiani O

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCL) are progressive neurodegenerative diseases occurring in infancy and adulthood. Atypical forms of these diseases have been described and are particularly represented in the late-infantile and juvenile onset groups. Recent progress in biochemistry and molecular genetics has identified some of these variants as separate disease entities while disclosing the phenotypic...

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Source

Identifiers

PMID: 11073229
DOI: 10.1007/s100720070041

Genes

NCL
CLN6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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