Showing 121 - 140 results of 140 for search '"PSEN2"', query time: 0.35s Refine Results
  1. 121
    STATISTICAL ANALYSES TO DETECT AND REFINE GENETIC ASSOCIATIONS WITH NEURODEGENERATIVE DISEASES
    by Katsumata, Yuriko
    Published 2017
    “... to mainly mutations in three genes: APP, PSEN1, and PSEN2. Late-onset AD (LOAD) is strongly associated...”
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  2. 122
    Linkage analysis of multiplex Caribbean Hispanic families loaded for unexplained early‐onset cases identifies novel Alzheimer's disease loci
    “... without clear inheritance patterns or mutations in APP, PSEN1, and PSEN2 and with two or more individuals...”
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    Article
  3. 123
    A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD
    “... in autosomal dominant fashion via pathogenic polymorphisms in three genes— APP, PSEN-1, and PSEN-2. Despite...”
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  4. 124
    A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences
    “...). Patients with PSEN2 mutations have a delayed AOO with longest disease duration and presented more...”
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    Article
  5. 125
    Identification of key changes in functional pathways and regulatory pathways in normal brain aging and in brain region-specific Alzheimer’s disease using the method of gene-selection by trend of disease progression
    by Chia-Wei Tang, 湯佳薇
    Published 2016
    “... in the genes APP, PSEN1, PSEN2, and APOE are high risk factors to AD. In spite of much research efforts...”
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  6. 126
    Genome-wide approaches reveal EGR1-controlled regulatory networks associated with neurodegeneration
    “..., and genes implicated in AD such as Picalm, Psen2 and App. We also demonstrate a potential regulatory link...”
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    Article
  7. 127
    Elucidating the role of Cystatin C in Alzheimer's disease pathology
    by Marcellus, Kristen
    Published 2014
    “... is caused by mutations in the APP or presenilin (PSEN1 and PSEN2) genes. However, the cause of LOAD remains...”
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  8. 128
    Alterações genômicas e epigenômicas nas manifestações anatomopatológicas e cognitivas da doença de Alzheimer
    by Darine Christina Maia Villela
    Published 2014
    “... deles (APP, PSEN1 e PSEN2) associados à forma familial de herança mendeliana, que corresponde a um tipo...”
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  9. 129
    Familial Alzheimer’s Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis
    “...Summary: Mutations in presenilin 1 (PSEN1) or presenilin 2 (PSEN2), the catalytic subunit of γ...”
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    Article
  10. 130
    Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol
    “... pathogenic mutation was found in 6 affected individuals (1 in PSEN1, 2 in PSEN2, 1 in GRN, 1 in MAPT, 1...”
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    Article
  11. 131
    Quantitative proteomic characterization of lung tissue in idiopathic pulmonary fibrosis
    “.... In addition to proteins with well-known functions such as COL1A1, SCGB1A1, TAGLN, PSEN2, TSPAN1, CTSB, AGR2...”
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    Article
  12. 132
    Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene
    “... (PSEN1) or presenilin 2 (PSEN2) can be disease causing. However, most EOAD families do not carry...”
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    Article
  13. 133
    Genetic risk factors for late-onset Alzheimer's disease in Chinese
    by Chen, Lu-hua., 陈璐华.
    Published 2013
    “... critical roles in its pathogenesis. Mutations in APP, PSEN1 and PSEN2 genes are confirmed to be causative...”
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  14. 134
    The molecular mechanism of memory-enhancing effects of psoralen, and the differential gene expression of sopolamine in rat hippocampus
    by Li-Wei Lin, 林立偉
    Published 2006
    “...-treated rat. The results showed that five genes MAPT、PSEN2、ABCG1、APLP2 and APBA1 were associated...”
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  15. 135
    Changes in functional pathways and hub-gene subnetworks derived from differential co-expression gene pairs in normal brain aging and region-specific Alzheimer’s disease
    by Yi-Yun Peng, 彭伊筠
    Published 2016
    “..., PSEN2, and APOE are high risk factors to AD. Recent reports have also suggested that infec-tions from...”
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  16. 136
    Identification of missing variants by combining multiple analytic pipelines
    “... pathogenic and protective mutations in APP, PSEN1, and PSEN2 genes were undetected by the default one...”
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    Article
  17. 137
    Genetic associations of in vivo pathology influence Alzheimer’s disease susceptibility
    “...10848087), AD-Cm (NME8-rs2722372 and PSEN2-rs75733498), AD-Ct (PSEN1-rs7523) and, Hv (CASS4-rs3746625...”
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    Article
  18. 138
    A 58-year-old female with blurred vision and apraxia
    “..., bilateral cingulate cortices and precuneus. No <em>PSEN1, PSEN2</em> or <em>APP</em> mutations were...”
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    Article
  19. 139
    Silver Nanoparticles Affect on Gene Expression of Inflammatory and Neurodegenerative Responses in Mouse Neural Cells
    by Huang, Chin-Lin, 黃瑾琳
    Published 2014
    “... presented AgNPs exposure decreased presenilin-1 (PSEN1) and presenilin-2 (PSEN2) gene expression in dose...”
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  20. 140
    A novel missense variant in ACAA1 contributes to early-onset Alzheimer’s disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline
    “... mutations in the well-known AD causal genes including APP, PSEN1, and PSEN2 impair a variety of pathways...”
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    Article
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