Výsledky vyhledávání - "Sofia Dumois-Petersen"

Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c. 1292C >A and phenotypic profile of patients

Autor: Francisco Javier Perea-Díaz, María Teresa Magaña-Torres, Luis E. Figuera, Sofia Dumois-Petersen, Martha Patricia Gallegos-Arreola, John M. Ringman

Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:1023-1029

Mutations in three genes (APP, PSEN1, and PSEN2) are the main cause of the autosomal dominant early-onset Alzheimer's disease (AD-EOAD). In PSEN1, the A431E (c.1292C>A, rs63750083) mutation is suspected to have exerted a founder effect in the State o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dda6696efc93f738e3312a3774861cdc
https://doi.org/10.1002/ajmg.c.31865

Zobrazit plný text záznamu

Akademický článek

The effect of years of schooling and age on CERAD‐MX performance in Mexican preclinical carriers of the APPV717I mutation: Randomized data simulation

Autor: Angélica Zuno‐Reyes, Karina Pérez‐Rubio, Martín Alonso Flores‐González, Ricardo Jauregui Torres, Sofía Dumois‐Petersen, Luis E. Figuera, John M. Ringman, Esmeralda Matute

Publikováno v: Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 16, Iss 3, Pp n/a-n/a (2024)

Abstract INTRODUCTION We aimed to determine the effect of years of schooling (YoS) and age on the Mexican adaptation of the Consortium to Establish a Registry for Alzheimer's Disease (CERAD‐MX) scores in preclinical carriers group (PCG) and non‐c

Externí odkaz: https://doaj.org/article/47eb2ee19f614c938f98a53880703338

Zobrazit plný text záznamu

Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c.1292CA and phenotypic profile of patients

Autor: Sofia, Dumois-Petersen, Martha P, Gallegos-Arreola, María T, Magaña-Torres, Francisco J, Perea-Díaz, John M, Ringman, Luis E, Figuera

Publikováno v: American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 184(4)

Mutations in three genes (APP, PSEN1, and PSEN2) are the main cause of the autosomal dominant early-onset Alzheimer's disease (AD-EOAD). In PSEN1, the A431E (c.1292CA, rs63750083) mutation is suspected to have exerted a founder effect in the State of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d9e6acb026b2bc1b4a1503f088b866cf
https://pubmed.ncbi.nlm.nih.gov/33274538

Zobrazit plný text záznamu

Akademický článek

Potential Modifying Effect of the APOEε4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer’s Disease with and without a Pathogenic Variant in PSEN1 in a Sample of the Mexican Population

Autor: César A. Valdez-Gaxiola, Eric Jonathan Maciel-Cruz, Rubiceli Hernández-Peña, Sofía Dumois-Petersen, Frida Rosales-Leycegui, Martha Patricia Gallegos-Arreola, José Miguel Moreno-Ortiz, Luis E. Figuera

Publikováno v: International Journal of Molecular Sciences, Vol 24, Iss 21, p 15687 (2023)

In Alzheimer’s disease (AD), the age of onset (AoO) exhibits considerable variability, spanning from 40 to 90 years. Specifically, individuals diagnosed with AD and exhibiting symptoms prior to the age of 65 are typically classified as early onset

Externí odkaz: https://doaj.org/article/a45808d62b6f42fe9a810359ffaa9190

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání