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...

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Detalles Bibliográficos
Autores principales: Aslam, Muhammad, Ullah, Anwar, Paramasivam, Nagarajan, Kandasamy, Nirosiya, Naureen, Saima, Badshah, Mazhar, Khan, Kafaitullah, Wajid, Muhammad, Abbasi, Rashda, Eils, Roland, Brockmann, Marc A., Schlesner, Matthias, Ahmad, Nafees, von Engelhardt, Jakob
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
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

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