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 Parkinsonism
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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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...
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Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6753086
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6753086
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-019-50102-6