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Article

Genotype-phenotype analyses of classic neuronal ceroid lipofuscinosis (NCLs): genetic predictions from clinical and pathological findings.

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 18 Feb 2006

Ju Weina, Wronska Anetta, Moroziewicz Dorota N, Zhong Rocksheng, Wisniewski Natalia, Jurkiewicz Anna, Fiory Michael, Wisniewski Krystyna E, Johnston Lance, Brown W Ted, Zhong Nanbert

Abstract excerpt

OBJECTIVE: Genotype-phenotype associations were studied in 517 subjects clinically affected by classical neuronal ceroid lipofuscinosis (NCL). METHODS: Genetic loci CLN1-3 were analyzed in regard to age of onset, initial neurological symptoms, and electron microscope (EM) profiles. RESULTS: The m...

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PMID: 16415965

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NCL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16415965-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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