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Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical...

Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6753086

Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism

About this item

Full title

Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism

Publisher

London: Nature Publishing Group UK

Journal title

Scientific reports, 2019-09, Vol.9 (1), p.13576-8, Article 13576

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

Atypical parkinsonian disorders (APDs) comprise a group of neurodegenerative diseases with heterogeneous clinical and pathological features. Most APDs are sporadic, but rare familial forms have also been reported. Epidemiological and post-mortem studies associated APDs with oxidative stress and cellular protein aggregates. Identifying molecular mec...

Alternative Titles

Full title

Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6753086

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6753086

Other Identifiers

ISSN

2045-2322

E-ISSN

2045-2322

DOI

10.1038/s41598-019-50102-6

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