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Characteristics of β‐secretase activity on APP‐V604M and APP‐V669L.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 3, p. 1, doi. 10.1002/alz.064382
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- Publication type:
- Article
PSEN1 Gly417Ala by CRISPR/Cas9 in functional pathogenicity.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 3, p. 1, doi. 10.1002/alz.050752
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- Publication type:
- Article
Alzheimer's disease risk factor mutations in patients diagnosed with Creutzfelt‐Jakob disease: Genetics/genetic factors of non‐Alzheimer's tauopathies.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.045035
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- Publication type:
- Article
Association of Apolipoprotein E genetic variation in Alzheimer's disease in a Korean population: Genetics/genetic factors of Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.041859
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- Publication type:
- Article
Functional characterizations of APP VAL604MET by CRISPR/CAS9: Molecular and cell biology/APP/Abeta/amyloid.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.040123
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- Publication type:
- Article
Whole exome sequencing analysis identifies genes and pathways in sporadic early‐onset Alzheimer's disease: Genetics/genetic factors of Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.037899
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- Publication type:
- Article
P4‐082: NOTCH3 MUTATIONS, AND THEIR POSSIBLE INVOLVEMENT IN ALZHEIMER'S DISEASE.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1306, doi. 10.1016/j.jalz.2019.06.3742
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- Publication type:
- Article
P3‐185: OPTIMAL FUNCTIONAL CHARACTERIZATION OF TRANSFECTED PSEN1 L232P CELL‐LINE BY CRISPR/CAS9.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1001, doi. 10.1016/j.jalz.2019.06.3214
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- Publication type:
- Article
P3‐131: GENETIC STUDY ON FRONTOTEMPORAL DEMENTIA GENES IN ASIAN PATIENTS WITH ALZHEIMER'S DISEASE.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P981, doi. 10.1016/j.jalz.2019.06.3159
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- Publication type:
- Article
P3‐115: WHOLE EXOME SEQUENCING ANALYSIS OF KOREAN PATIENTS WITH EARLY ONSET DEMENTIA.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P974, doi. 10.1016/j.jalz.2019.06.3143
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- Publication type:
- Article
P2‐120: UPDATE ON RARE SORTILIN RELATED RECEPTOR‐1 (SORL1) MUTATIONS IN KOREAN, THAI AND MALAYSIAN EOAD AND DEMENTIA PATIENTS, WITH STRUCTURE PREDICTIONS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P618, doi. 10.1016/j.jalz.2019.06.2527
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- Publication type:
- Article
P2‐117: THE FREQUENCY OF APP, PSEN1, AND PSEN2 MUTATIONS IN EARLY‐ONSET ALZHEIMER'S DISEASE DISCOVERED IN ASIAN COUNTRIES.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P617, doi. 10.1016/j.jalz.2019.06.2524
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- Publication type:
- Article
P2‐118: A PATHOGENIC PRESENILIN‐1 VAL96PHE MUTATION FROM A MALAYSIAN FAMILY.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P618, doi. 10.1016/j.jalz.2019.06.2525
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- Publication type:
- Article
P1‐143: A PATHOGENIC PRESENILIN‐1 (PSEN1) TRP165CYS MUTATION, DISCOVERED IN A KOREAN PATIENT.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P292, doi. 10.1016/j.jalz.2019.06.698
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- Publication type:
- Article
P4‐039: APP, PSEN1, AND PSEN2 MUTATIONS IN EARLY‐ONSET ALZHEIMER'S DISEASE DISCOVERED IN ASIAN COUNTRIES: A GENETIC SCREENING STUDY OF FAMILIAL AND SPORADIC CASES.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1447, doi. 10.1016/j.jalz.2018.06.2441
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- Publication type:
- Article
P3‐099: A KNOWN PSEN1 E184G MUTATION IN AN EOAD PATIENT FROM THAILAND.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1105, doi. 10.1016/j.jalz.2018.06.1455
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- Publication type:
- Article
P2‐109: A KNOWN PSEN1 MUTATION, T116I, ASSOCIATED WITH EARLY ONSET ALZHEIMER'S DISEASE IN A KOREAN FAMILY.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P711, doi. 10.1016/j.jalz.2018.06.795
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- Publication type:
- Article
P1‐166: SCREENING FOR MUTATIONS IN EARLY‐ONSET ALZHEIMER'S DISEASE FROM THAILAND WITH ADAM GENEPANEL 1.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P342, doi. 10.1016/j.jalz.2018.06.170
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- Publication type:
- Article
P1‐165: A NOVEL APP VAL604MET MUTATION IN A THAI WITH EARLY‐ONSET ALZHEIMER DISEASE.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P341, doi. 10.1016/j.jalz.2018.06.169
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- Publication type:
- Article
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 8417, doi. 10.3390/ijms24098417
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- Publication type:
- Article
Prion Mutations in Republic of Republic of Korea, China, and Japan.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 625, doi. 10.3390/ijms24010625
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- Publication type:
- Article
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13331, doi. 10.3390/ijms232113331
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- Publication type:
- Article
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810970
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- Publication type:
- Article
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 1, p. 552, doi. 10.3390/ijms23010552
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- Publication type:
- Article
Transcriptomics in Alzheimer's Disease: Aspects and Challenges.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3517, doi. 10.3390/ijms21103517
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- Publication type:
- Article
APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 19, p. 4757, doi. 10.3390/ijms20194757
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- Publication type:
- Article
Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 17, p. 4298, doi. 10.3390/ijms20174298
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- Publication type:
- Article
Potential Fluid Biomarkers for the Diagnosis of Mild Cognitive Impairment.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 17, p. 4149, doi. 10.3390/ijms20174149
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- Publication type:
- Article
Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 6, p. 1514, doi. 10.3390/ijms20061514
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- Publication type:
- Article
PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 9, p. 2604, doi. 10.3390/ijms19092604
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- Publication type:
- Article
A NOVEL PSEN1 G417A MUTATION IN A KOREAN AD PATIENT WITH PARKINSONISM.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P649, doi. 10.1016/j.jalz.2017.06.762
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- Publication type:
- Article
NOVEL AND KNOWN RARE SORL1 MUTATIONS IN KOREAN AD PATIENTS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P965, doi. 10.1016/j.jalz.2017.06.1296
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- Publication type:
- Article
GENETIC ANALYSES OF YOUNG PATIENTS WITH ALZHEIMER’S DISEASE FROM NEXT GENERATION SEQUENCING.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P305, doi. 10.1016/j.jalz.2017.06.229
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- Publication type:
- Article
MUTATIONAL ANALYSIS OF PRNP IN EARLY ONSET ALZHEIMER’S DISEASE IN KOREA.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P977, doi. 10.1016/j.jalz.2017.06.1324
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- Publication type:
- Article
A NOVEL APP (V669L) MUTATION IN A KOREAN AD PATIENT.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P301, doi. 10.1016/j.jalz.2017.06.219
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- Publication type:
- Article
HIGH FREQUENCY OF ABCA7 MUTATIONS IN PATIENTS WITH EARLY-ONSET ALZHEIMER’S DISEASE.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P655, doi. 10.1016/j.jalz.2017.06.777
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- Publication type:
- Article
THREE NOVEL PATHOGENIC VARIANTS IN CLUSTERIN (CLU) ASSOCIATED WITH EARLY-ONSET ALZHEIMER DISEASE.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1283, doi. 10.1016/j.jalz.2017.06.1933
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- Publication type:
- Article
GENETIC DIAGNOSIS OF NEURODEGENERATIVE DISORDERS BASED ON GENE PANELS AND PRIMERS BY NEXT-GENERATION SEQUENCING.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P152, doi. 10.1016/j.jalz.2016.06.248
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- Publication type:
- Article
NOVEL, PSEN1 T119I MUTATION IN AN EARLY-ONSET ALZHEIMER'S DISEASE PATIENT.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P645, doi. 10.1016/j.jalz.2016.06.1297
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- Publication type:
- Article
TWO NOVEL GRN MUTATIONS IN KOREAN PATIENTS DIAGNOSED WITH EARLY ONSET ALZHEIMER'S DISEASE.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P1033, doi. 10.1016/j.jalz.2016.06.2139
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- Publication type:
- Article
GENETIC SCREENING FOR TAU (MAPT) MUTATIONS IN KOREAN EARLY ONSET ALZHEIMER'S DISEASE PATIENTS.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P858, doi. 10.1016/j.jalz.2016.06.1760
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- Publication type:
- Article
A POSSIBLE PATHOGENIC PSEN2 MUTATION, H169N IN A KOREAN EOAD PATIENT.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P451, doi. 10.1016/j.jalz.2016.06.873
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- Publication type:
- Article
Novel, probably pathogenic PSEN1 mutation (L232P) in a korean Alzheimer’s disease patient.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P360, doi. 10.1016/j.jalz.2015.06.254
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- Publication type:
- Article
Novel, probably pathogenic PSEN1 mutation (G209A) in a korean Alzheimer’s disease patient.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P488, doi. 10.1016/j.jalz.2015.06.554
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- Publication type:
- Article
Optimization of specific multiplex DNA primers to detect variable CLU genomic lesions in patients with Alzheimer’s disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P489, doi. 10.1016/j.jalz.2015.06.555
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- Publication type:
- Article
Novel PSEN1 mutation (E280K) in a malaysian family.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P625, doi. 10.1016/j.jalz.2015.06.881
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- Publication type:
- Article
Genetics of early-onset Alzheimer’s disease (AD) in korea: An update.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P359, doi. 10.1016/j.jalz.2015.06.253
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- Publication type:
- Article
Genetic analysis of Korean early Alzheimer's and dementia patients
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- 2012
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- Publication type:
- Abstract
Searching for Novel Korean Alzheimer’s Disease Mutations
- Published in:
- 2011
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- Publication type:
- Abstract
Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.899644
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- Publication type:
- Article