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Kim, Nam-Soon(김남순) 108

Rare Disease Research Center (희귀난치질환연구센터)

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Results 1-20 of 108 (Search time: 0.005 seconds).

No. Year Title Type
108 2024

2024Article

ARL6IP1 gene delivery reduces neuroinflammation and neurodegenerative pathology in hereditary spastic paraplegia modelJournal of Experimental Medicine, vol. 221, no. 1, pp. e20230367-e20230367Jung Hwa LimHyun Mi Kang; Dae Hun Kim; Bohyun Jeong; Da Yong LeeJae-Ran Lee; Jeong Yeob Baek; Hyun-Soo ChoMi-Young SonDae Soo Kim, et al.
Article
107 2024

2024Article

Maternal nanoplastic ingestion induces an increase in offspring body weight through altered lipid species and microbiotaEnvironment International, vol. 185, pp. 108522-108522Bohyeon Jeong; Ji Sun Kim; A R Kwon; J Lee; Subin Park; Jahong Koo; Wang Sik Lee; Jeong Yeob Baek; W H Shin; Jung-Sook Lee, et al.
Article
106 2023

2023Article

Strumpellin/WASHC5 regulates the structural plasticity of cortical neurons involved in gait coordinationBiochemical and Biophysical Research Communications, vol. 673, pp. 169-174So-Hee Lim; S Shin; Na-Yoon Lee; S S Min; Nam-Soon KimDa Yong LeeJae-Ran Lee
Article
105 2022

2022Article

Maternal exposure to polystyrene nanoplastics causes brain abnormalities in progenyJournal of Hazardous Materials, vol. 426, pp. 127815-127815Bohyeon Jeong; Jeong Yeob Baek; Jahong Koo; Subin Park; Young-Kyoung Ryu; Kyoung Shim Kim; S Zhang; C Chung; R Dogan; H S Choi, et al.
Article
104 2022

2022Article

TREX1 deficiency induces ER stress-mediated neuronal cell death by disrupting Ca 2+ homeostasisMolecular Neurobiology, vol. 59, no. 3, pp. 1398-1418Debasish Halder; Su Jin Jeon; Ji Yong YoonJeong Ju Lee; Soo Young Jun; Min Hyuk Choi; Bohyeon Jeong; D H Sung; Da Yong Lee; B J Kim, et al.
Article
103 2022

2022Article

Hereditary spastic paraplegia in Koreans: clinical characteristics and factors influencing the disease severityJournal of Clinical Neurology, vol. 18, no. 3, pp. 343-350J G Do; B J Kim; Nam-Soon Kim; D H Sung
Article
102 2022

2022Article

FBXL17/spastin axis as a novel therapeutic target of hereditary spastic paraplegiaCell and Bioscience, vol. 12, pp. 110-110Hyun Mi Kang; Dae Hun Kim; Mijin Kim; Yoohong Min; Bohyeon Jeong; Kyung Hee NohDa Yong LeeHyun-Soo ChoNam-Soon KimCho-Rok Jung, et al.
Article
101 2021

2021Article

Characteristics of genetic variations associated with Lennox-Gastaut syndrome in Korean familiesFrontiers in Genetics, vol. 11, pp. 590924-590924Jin Ok Yang; Min Hyuk Choi; Ji Yong YoonJeong Ju Lee; S O Nam; Soo Young Jun; H H Kwon; Sohyun Yun; Su Jin Jeon; Iksu Byeon, et al.
Article
100 2021

2021Article

Reduction of squalene epoxidase by cholesterol accumulation accelerates colorectal cancer progression and metastasisGastroenterology, vol. 160, no. 4, pp. 1194-1207Soo Young Jun; A J Brown; N K Chua; Ji Yong YoonJeong Ju LeeJin Ok YangIn Su Jang; Su Jin Jeon; T I Choi; C H Kim, et al.
Article
99 2021

2021Article

The human TOR signaling regulator is the key indicator of liver cancer patients' overall survival: TIPRL/LC3/CD133/CD44 as potential biomarkers for early liver cancersCancers, vol. 13, no. 12, pp. 2925-2925Soo Young Jun; Hyang Ran YoonJi Yong Yoon; Su Jin Jeon; Jeong Ju Lee; D Halder; J M Kim; Nam-Soon Kim
Article
98 2021

2021Article

The emerging genetic diversity of hereditary spastic paraplegia in Korean patientsGenomics, vol. 113, no. 6, pp. 4136-4148Jin Ok YangJi Yong Yoon; D H Sung; Sohyun Yun; Jeong Ju Lee; Soo Young Jun; D Halder; Su Jin Jeon; Euijeon Woo; J M Seok, et al.
Article
97 2021

2021Article

Nanoplasmonic immunosensor for the detection of SCG2, a candidate serum biomarker for the early diagnosis of neurodevelopmental disorderScientific Reports, vol. 11, pp. 22764-22764Sohee Lim; Yun Ju Sung; N Jo; Na-Yoon Lee; Kyoung Shim KimDa Yong LeeNam-Soon Kim; J Lee; Ju Young ByunYong Beom Shin, et al.
Article
96 2021

2021Article

Altered gene expression profiles in neural stem cells derived from duchenne muscular dystrophy patients with intellectual disabilityExperimental Neurobiology, vol. 30, no. 4, pp. 263-274Jahong Koo; Subin Park; Soo Eun Sung; J Lee; Dae Soo KimJungwoon LeeJae-Ran LeeNam-Soon KimDa Yong Lee
Article
95 2020

2020Article

A novel X-linked variant of IQSEC2 is associated with Lennox-gastaut syndrome and mild intellectual disability in three generations of a korean familyGenetic Testing and Molecular Biomarkers, vol. 24, no. 1, pp. 54-58Min Hyuk Choi; Jin Ok Yang; Ju-Sik Min; Jeong Ju Lee; Soo Young Jun; Yong Jae LeeJi Yong Yoon; Su Jin Jeon; Iksu Byeon; J W Kang, et al.
Article
94 2020

2020Article

Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implicationsParkinsonism & Related Disorders, vol. 80, pp. 58-64M Kim; A R Kim; J S Kim; J Park; J Youn; J H Ahn; J K Mun; C Lee; Nam-Soon Kim; N K D Kim, et al.
Article
93 2020

2020Article

Coiled-coil domain containing 50-V2 protein positively regulates neurite outgrowthScientific Reports, vol. 10, pp. 21295-21295Jusik Min; D Halder; Ji Yong Yoon; Su Jin Jeon; Soo Young Jun; Jae-Ran LeeJeong Ju Lee; Min Hyuk Choi; Cho-Rok JungDa Yong Lee, et al.
Article
92 2020

2020Article

Depression-like behaviors induced by defective PTPRT activity through dysregulated synaptic functions and neurogenesisJournal of Cell Science, vol. 133, pp. jcs243972-jcs243972So-Hee Lim; S Shin; M H Kim; E C Kim; Da Yong LeeJeonghee Moon; Hey-Yeon Park; Young-Kyoung Ryu; Young Mi Kang; Y J Kang, et al.
Article
91 2020

2020Article

Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestationClinical Neurology and Neurosurgery, vol. 199, pp. 106267-106267M Kim; A R Kim; J Park; J S Kim; J H Ahn; W Y Park; N K D Kim; C Lee; Nam-Soon Kim; J W Cho, et al.
Article
90 2019

2019Article

TIPRL potentiates survival of lung cancer by inducing autophagy through the eIF2α-ATF4 pathwayCell Death & Disease, vol. 10, no. 12, pp. 959-959Su Jin Jeon; Jun Ho Ahn; D Halder; Hyun Soo ChoJung Hwa Lim; Soo Young Jun; Jeong Ju LeeJi Yong Yoon; Min Hyuk Choi; Cho Rok Jung, et al.
Article
89 2019

2019Article

Type 1 sialidosis patient with a novel deletion mutation in the NEU1 gene: case report and literature reviewCerebellum, vol. 18, no. 3, pp. 659-664J H Ahn; A R Kim; C Lee; N K D Kim; Nam-Soon Kim; W Y Park; M Kim; J Youn; J W Cho; J S Kim
Article
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