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자료 필터
자료유형
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2017 ~ 2026
2017 2026
키워드
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전체 31건 중 1번부터 10번까지의 결과를 표시합니다.
2026
Article
A Novel Frameshift Mutation in SLC20A2 in a Korean Patient with Primary Brain Calcification, Parkinsonism and Memory Impairment
- Bagyinszky, Eva ;
- Kim, Minju ;
- Park, Young Ho ;
- Kim, Danyeong ;
- An, Seong Soo A. ;
- 외 1명
- 2026-03
- BIOMEDICINES
- MDPI
2025
Article
Targeting Granulin Haploinsufficiency in Frontotemporal Dementia: From Genetic Mechanisms to Therapeutics
- 2025-10
- International Journal of Molecular Sciences
- MDPI
Article
Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies
- Bagyinszky, Eva ;
- Yang, YoungSoon ;
- An, Seong Soo A.
- 2025-08
- International Journal of Molecular Sciences
- MDPI
Article
TREM2 in Neurodegenerative Disorders: Mutation Spectrum, Pathophysiology, and Therapeutic Targeting
- Yang, Hyewon ;
- Kim, Danyeong ;
- Yang, YoungSoon ;
- Bagyinszky, Eva ;
- An, Seong Soo A.
- 2025-07
- International Journal of Molecular Sciences
- MDPI
2024
Article
Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors
- 2024-11
- International Journal of Molecular Sciences
- MDPI
Article
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
- Yang, YoungSoon ;
- Bagyinszky, Eva ;
- An, Seong Soo A.
- 2024-09
- International Journal of Molecular Sciences
- MDPI
Article
Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases
- 2024-08
- International Journal of Molecular Sciences
- MDPI
2023
Article
PSEN1 His214Asn Mutation in a Korean Patient with Familial EOAD and the Importance of Histidine-Tryptophan Interactions in TM-4 Stability
- Bagyinszky, Eva ;
- Kim, Minju ;
- Park, Young Ho ;
- An, Seong Soo A. ;
- Kim, Sangyun
- 2023-12
- International Journal of Molecular Sciences
- MDPI
Article
A Novel Mutation in Sacsin, p.Val1335IIe, May Cause Late-Onset Sacsinopathy Due to Haploinsufficiency
- Kim, Danyeong ;
- Ryoo, Nayoung ;
- Park, Young Ho ;
- Bagyinszky, Eva ;
- An, Seong Soo Alexander ;
- 외 1명
- 2023-12
- Current Issues in Molecular Biology
- MDPI
Article
Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer's Disease
- Yang, YoungSoon ;
- Bagyinszky, Eva ;
- An, Seong Soo A.
- 2023-10
- International Journal of Molecular Sciences
- MDPI
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