Rare Disease Research Center (희귀난치질환연구센터)
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 Lim; Hyun Mi Kang; Dae Hun Kim; Bohyun Jeong; Da Yong Lee; Jae-Ran Lee; Jeong Yeob Baek; Hyun-Soo Cho; Mi-Young Son; Dae 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 Kim; Da Yong Lee; Jae-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 Yoon; Jeong 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 Noh; Da Yong Lee; Hyun-Soo Cho; Nam-Soon Kim; Cho-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 Yoon; Jeong 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 Yoon; Jeong Ju Lee; Jin Ok Yang; In 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 Yoon; Ji 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 Yang; Ji 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 Kim; Da Yong Lee; Nam-Soon Kim; J Lee; Ju Young Byun; Yong 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 Kim; Jungwoon Lee; Jae-Ran Lee; Nam-Soon Kim; Da 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 Lee; Ji 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 Lee; Jeong Ju Lee; Min Hyuk Choi; Cho-Rok Jung; Da 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 Lee; Jeonghee 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 Cho; Jung Hwa Lim; Soo Young Jun; Jeong Ju Lee; Ji 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 |