Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson’s disease

Rare variants in the beta-glucocerebrosidase gene (GBA1) are common genetic risk factors for alpha synucleinopathy, which often manifests clinically as GBA-associated Parkinson’s disease (GBA-PD). Clinically, GBA-PD closely mimics idiopathic PD, but it may present at a younger age and often aggregat...

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Detalles Bibliográficos
Autores principales: Aslam, Muhammad, Kandasamy, Nirosiya, Ullah, Anwar, Paramasivam, Nagarajan, Öztürk, Mehmet Ali, Naureen, Saima, Arshad, Abida, Badshah, Mazhar, Khan, Kafaitullah, Wajid, Muhammad, Abbasi, Rashda, Ilyas, Muhammad, Eils, Roland, Schlesner, Matthias, Wade, Rebecca C., Ahmad, Nafees, von Engelhardt, Jakob
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7785741/
https://www.ncbi.nlm.nih.gov/pubmed/33402667
http://dx.doi.org/10.1038/s41525-020-00163-8

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