… and, respect to missensemutations, these duplications seem … 600759, chromosome 1q31-q42) gene has a genetic structure … Genetic counseling and testing for Alzheimerdisease: Joint …
E Gómez-Tortosa, M Ruggiero… - … of Alzheimer's …, 2018 - content.iospress.com
… of missense SORL1 variations in the few carrier kindreds … dementia of Alzheimer type (DAT) cases, including kindreds with … [14], and a recently reported missensemutation segregating …
YF Shea, LW Chu, AOK Chan, J Ha, Y Li… - … Medical Association, 2016 - Elsevier
… His163Arg missensemutation of PSEN1 diagnosed in Hong Kong, including two affected family members: a female patient with AOO at 42 years and a male patient with AOO at 41 …
MH Dai, H Zheng, LD Zeng, Y Zhang - Oncotarget, 2018 - ncbi.nlm.nih.gov
… Alzheimer'sdisease (AD) is a progressive … the APP gene on chromosome 21 [9], the presenilin 1 (PSEN1) gene on … of PSEN1 mutations in EOAD are missensemutations, which …
R Cacace, K Sleegers, C Van Broeckhoven - Alzheimer's & dementia, 2016 - Elsevier
… to the missensemutations, showing a near-complete disease … peak at chromosome 7q36 but candidate gene screening in this … mutations carriers from the Colombian PSEN1 kindred …
M Hutton, J Pérez-Tur, J Hardy - Essays in Biochemistry, Volume …, 2017 - books.google.com
… mutations in both PS-1 and PS-2 are missensemutations … The Australian kindred has an interesting phenotype in which … STN-12, the chromosome I familialAlzheimer'sdiseasegene. …
L Luukkainen, S Helisalmi, L Kytövuori… - … of Alzheimer's …, 2019 - content.iospress.com
… the genetics underlying early-onset Alzheimer’s disease (AD) … mutations in PSEN1 and MAPT genes in a Finnish EOD cohort. Both identified cases had a very early onset of the disease …
JI Vélez, F Lopera, CT Silva, A Villegas… - Molecular …, 2020 - Springer
… at position 73,664,808 in chromosome 14, is often referred to as the E280A or Paisa mutation. … Here we show an important set of genes whose role in the pathophysiology and …
J Bras, R Djaldetti, AM Alves, S Mead, L Darwent… - Neurobiology of …, 2016 - Elsevier
… effect in the gene (nonsynonymous missense, nonsense, affecting … Based on the hypothesis that the mutation underlying the disease … However, even within the same kindred, significant …