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Article

A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Oct 2015

Yu Feng, Liu Xiao-Min, Chen Yin-He, Zhang Sheng-Quan, Wang Kai

Abstract excerpt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26032578
DOI: 10.1007/s10072-015-2272-4

Genes

TPP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.PMID 26032578Read ↗

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Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 diseaseSemantic proximity Read ↗

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.Semantic proximity Read ↗

Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.Semantic proximity Read ↗

Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile.Semantic proximity Read ↗

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs.Semantic proximity Read ↗

Novel CLN5 Mutation in Neuronal Ceroid Lipofuscinosis Type 5.Semantic proximity Read ↗

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