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PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder

Mutations in presenilin 1 (PSEN1) are the most common cause of autosomal dominant Alzheimer’s disease. Here, we report a Canadian-Vietnamese family carrying a PSEN1 p.Met233Val mutation with an exceptionally early and severe presentation that includes a wide range of atypical symptoms, including pro...

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Detalhes bibliográficos
Publicado no:J Mov Disord
Main Authors: Appel-Cresswell, Silke, Guella, Ilaria, Lehman, Anna, Foti, Dean, Farrer, Matthew J.
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Movement Disorder Society 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5790629/
https://ncbi.nlm.nih.gov/pubmed/29316780
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14802/jmd.17066
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