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Article

Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.

Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2006

Godeiro-Júnior Clécio, Inaoka Riguel Jun, Barbosa Marcelo Rocha, Silva Maria Regina Regis, Aguiar Patrícia de Carvalho, Barsottini Orlando

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17044092
DOI: 10.1002/mds.21146

Genes

NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.PMID 17044092Read ↗

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[Clinical features and gene mutation analysis of patients with Niemann-Pick disease type C].Semantic proximity Read ↗

The p.Ala1035Val variant in Niemann-Pick type C1: Clinical and molecular characterization in Brazilian and Portuguese patients suggests a shared founder effect.Semantic proximity Read ↗

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Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.Semantic proximity Read ↗

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