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A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer's Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 17, p. 9678, doi. 10.3390/ijms25179678
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- Publication type:
- Article
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
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- Cells (2073-4409), 2023, v. 12, n. 15, p. 1948, doi. 10.3390/cells12151948
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- Publication type:
- Article
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 10, p. 1328, doi. 10.3390/brainsci11101328
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- Article
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-44848-2
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- Publication type:
- Article
PSEN1 His214Asn Mutation in a Korean Patient with Familial EOAD and the Importance of Histidine–Tryptophan Interactions in TM-4 Stability.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 1, p. 116, doi. 10.3390/ijms25010116
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- Article
Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer's Disease.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 20, p. 15461, doi. 10.3390/ijms242015461
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- Article
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 8417, doi. 10.3390/ijms24098417
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- 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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- 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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- 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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- 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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- 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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- 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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- 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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- 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
Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 15, p. 8275, doi. 10.3390/ijms25158275
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- Publication type:
- Article
A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.
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- 2019
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- Publication type:
- journal article
Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.
- Published in:
- Neuropsychiatric Disease & Treatment, 2019, v. 15, p. 2003, doi. 10.2147/NDT.S215277
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- Publication type:
- Article
Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.
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- Neuropsychiatric Disease & Treatment, 2018, v. 14, p. 3015, doi. 10.2147/NDT.S180174
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- Publication type:
- Article
Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.
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- Neuropsychiatric Disease & Treatment, 2018, v. 14, p. 2067, doi. 10.2147/NDT.S165445
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- Publication type:
- Article
Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.
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- Neuropsychiatric Disease & Treatment, 2015, v. 11, p. 2315, doi. 10.2147/NDT.S86334
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- Publication type:
- Article
Role of apolipoprotein E in neurodegenerative diseases.
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- Neuropsychiatric Disease & Treatment, 2015, v. 11, p. 1723, doi. 10.2147/NDT.S84266
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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.
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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.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.
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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.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.
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- 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.
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- 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.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P618, doi. 10.1016/j.jalz.2019.06.2527
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- Publication type:
- Article
P2‐118: A PATHOGENIC PRESENILIN‐1 VAL96PHE MUTATION FROM A MALAYSIAN FAMILY.
- Published in:
- 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
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
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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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
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.
- Published in:
- 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.
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- 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