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Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil.

Arquivos de neuro-psiquiatria - 1 Feb 2011

Valadares Eugênia Ribeiro, Pizarro Mayara Xavier, Oliveira Luiz Roberto, Amorim Regina Helena Caldas de, Pinheiro Tarcísio Márcio Magalhães, Grieben Ulrike, Santos Helena Hollanda, Queiroz Rachel Rabelo, Lopes Guilherme de Castro, Godard Ana Lúcia Brunialti

Abstract excerpt

OBJECTIVE: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood. We report the clinical data and molecular analysis of a large Brazilian family. METHOD: Family composed of two consanguineous couples and thirty-two children. Clinical data of ten JNCL patients and molecular analyses on 13 participants were...

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PMID: 21359416
DOI: 10.1590/s0004-282x2011000100004

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

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