Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2

BACKGROUND: The triggering receptor expressed on myeloid cell 2 (TREM2) is a major regulator of neuroinflammatory processes in neurodegeneration. To date, the p.H157Y variant of TREM2 has been reported only in patients with Alzheimer’s disease. Here, we report three patients with frontotemporal deme...

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Detalles Bibliográficos
Autores principales: Ogonowski, Natalia, Santamaria-Garcia, Hernando, Baez, Sandra, Lopez, Andrea, Laserna, Andrés, Garcia-Cifuentes, Elkin, Ayala-Ramirez, Paola, Zarante, Ignacio, Suarez-Obando, Fernando, Reyes, Pablo, Kauffman, Marcelo, Cochran, Nick, Schulte, Michael, Sirkis, Daniel W, Spina, Salvatore, Yokoyama, Jennifer S, Miller, Bruce L, Kosik, Kenneth S, Matallana, Diana, Ibáñez, Agustín
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447405/
https://www.ncbi.nlm.nih.gov/pubmed/36813542
http://dx.doi.org/10.1136/jmg-2022-108627

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447405/
https://www.ncbi.nlm.nih.gov/pubmed/36813542
http://dx.doi.org/10.1136/jmg-2022-108627

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