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Article

De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.

Journal of neurology, neurosurgery, and psychiatry - 1 Dec 2007

Cannella M, Martino T, Simonelli M, Ciammola A, Gradini R, Ciarmiello A, Gianfrancesco F, Squitieri F

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17682007
DOI: 10.1136/jnnp.2007.121137
PMCID: PMC2095619

Genes

PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.PMID 17682007Read ↗

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Creutzfeldt-Jakob disease with a novel insertion and codon 219 Lys/Lys polymorphism in PRNP.Semantic proximity Read ↗

PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.Semantic proximity Read ↗

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Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophySemantic proximity Read ↗

A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature.Semantic proximity Read ↗

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