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Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism
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 cell...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6753086/ https://www.ncbi.nlm.nih.gov/pubmed/31537871 http://dx.doi.org/10.1038/s41598-019-50102-6 |