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Clinical Interventions in Aging Volume 11, 2016 - Issue
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Case Report

PSEN1 L226F mutation in a patient with early-onset Alzheimer’s disease in Korea

Eva Bagyinszky1 Department of BioNano Technology, Gachon University, Seongnam-si
,
Sun Ah Park2 Department of Neurology, Soonchunhyang University Bucheon Hospital, Bucheon
,
Hyung Jun Kim2 Department of Neurology, Soonchunhyang University Bucheon Hospital, Bucheon
,
Seong Hye Choi3 Department of Neurology, Inha University School of Medicine, Incheon
,
Seong Soo A An1 Department of BioNano Technology, Gachon University, Seongnam-siCorrespondence[email protected]
&
Sang Yun Kim4 Department of Neurology, Seoul National University College of Medicine & Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam-si, Republic of KoreaCorrespondence[email protected]
Pages 1433-1440 | Published online: 12 Oct 2016

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Seong Soo An, Sun Ah Park, Eva Bagyinszky, Sun Oh Bae, Yoon-Jeong Kim, Ji Young Im, Kyung Won Park, Kee Hyung Park, Eun-Joo Kim, Jee Hyang Jeong, Jong Hun Kim, Hyun Jeong Han, Seong Hye Choi & SangYun Kim. (2016) A genetic screen of the mutations in the Korean patients with early-onset Alzheimer’s disease. Clinical Interventions in Aging 11, pages 1817-1822.
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Articles from other publishers (9)

Ya. V. Gorina, O. L. Vlasova, A. V. Bolshakova & A. B. Salmina. (2023) Alzheimer’s Disease: a Search for the Best Experimental Models to Decode Cellular and Molecular Mechanisms of Its Development. Journal of Evolutionary Biochemistry and Physiology 59:1, pages 119-132.
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Ya. V. Gorina, A. B. Salmina, D. P. Chernyuk, A. V. Bolshakova, P. M. Balaban, I. B. Bezprozvanny & O. L. Vlasova. (2022) Features of the Development and Analysis of Impairments to Social Behavior and Cognitive Functions in Animals with Experimental Alzheimer’s Disease. Neuroscience and Behavioral Physiology 52:5, pages 669-676.
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Aamira J. Huq, Adrienne Sexton, Paul Lacaze, Colin L. Masters, Elsdon Storey, Dennis Velakoulis, Paul A. James & Ingrid M. Winship. (2021) Genetic testing in dementia‐A medical genetics perspective. International Journal of Geriatric Psychiatry 36:8, pages 1158-1170.
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Qi Qin, Yunsi Yin, Yan Wang, Yuanyuan Lu, Yi Tang & Jianping Jia. (2020) Gene mutations associated with early onset familial Alzheimer’s disease in China: An overview and current status. Molecular Genetics & Genomic Medicine 8:10.
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Vorapun Senanarong, Seong Soo A. An, Vo Van Giau, Chanin Limwongse, Eva Bagyinszky & SangYun Kim. (2020) Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer’s Disease. Diagnostics 10:3, pages 135.
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Francesca Bartesaghi, Chiara Emilia Rosci, Cecilia Rassiga, Valentina Barbieri, Orsola Gambini, Stefano Floro, Andrea Maria D’Arrigo, Angelo Del Sole, Elio Angelo Scarpini, Daniela Galimberti & Alberto Priori. (2020) Psychiatric Disorders in Alzheimer Disease With the Presenilin-1 L226F Mutation. Cognitive and Behavioral Neurology 33:4, pages 278-282.
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Jia Liu, Qianqian Wang, Donglai Jing, Ran Gao, Jing Zhang, Chunlei Cui, Hongwen Qiao, Zhigang Liang, Chaodong Wang, Pedro Rosa-Neto, Liyong Wu, Jianping Jia & Serge Gauthier. (2019) Diagnostic Approach of Early-Onset Dementia with Negative Family History: Implications from Two Cases of Early-Onset Alzheimer’s Disease with De Novo PSEN1 Mutation. Journal of Alzheimer's Disease 68:2, pages 551-558.
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Gaël Nicolas & Joris A. Veltman. (2018) The role of de novo mutations in adult-onset neurodegenerative disorders. Acta Neuropathologica 137:2, pages 183-207.
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Limin Ma, Jiewen Zhang, Yingying Shi, Wan Wang, Zhixia Ren, Mingrong Xia, Yuanxing Zhang & Miaomiao Yang. (2018) Gene mutations in a Han Chinese Alzheimer's disease cohort. Brain and Behavior 9:1.
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