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A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD

Dementia comprises several neurodegenerative disorders with similar neuropsychiatric features and Alzheimer’s disease (AD) is the most common of them. Genetic factors are strongly implicated into its etiology especially for early-onset cases (EOAD) occuring before the age of 65. About 10% of these a...

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Detalles Bibliográficos
Autores principales: Stoychev, Kaloyan R., Stoimenova-Popova, Maya, Chumpalova, Petranka, Ilieva, Lilia, Swamad, Mohamed, Kamburova-Martinova, Zornitsa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6918796/
https://www.ncbi.nlm.nih.gov/pubmed/31920735
http://dx.doi.org/10.3389/fpsyt.2019.00857