Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings

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In the last few years, the SORL1 gene has been strongly implicated in the development of Alzheimer’s disease (AD). We performed whole‐exome sequencing on 37 patients with early‐onset dementia or family history suggestive of autosomal dominant dementia. Data analysis was based on a custom panel that...

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Bibliographic Details
Main Authors: Alvarez‐mora, M.I (Author), Arteche‐lopez, A.R (Author), Bartolomé, F. (Author), Blanco‐palmero, V.A (Author), Carro, E. (Author), Gil‐fournier, B. (Author), Gomez‐manjon, I. (Author), Gomez‐rodriguez, M.J (Author), Gómez‐tortosa, E. (Author), González‐sánchez, M. (Author), Hernandez‐lain, A. (Author), Herrero‐San Martín, A.O (Author), Jimenez Almonacid, J. (Author), Lezana Rosales, J.M (Author), Llamas‐velasco, S. (Author), Moreno‐garcia, M. (Author), Palma Milla, C. (Author), Pérez‐martínez, D.A (Author), Quesada‐espinosa, J.F (Author), Ramiro‐león, S. (Author), Sanchez‐calvin, M.T (Author), Villarejo‐galende, A. (Author)
Format: Article
Language:English
Published: MDPI 2022
Subjects:
Alzheimer
cerebral amyloid angiopathy
homozygous case
SORL1
SorLA immunohistochemistry
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