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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...
Autores principales: | Appel-Cresswell, Silke, Guella, Ilaria, Lehman, Anna, Foti, Dean, Farrer, Matthew J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Movement Disorder Society
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790629/ https://www.ncbi.nlm.nih.gov/pubmed/29316780 http://dx.doi.org/10.14802/jmd.17066 |
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