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Kim, Nam-Soon (김남순) 117

Rare Disease Research Center (희귀난치질환연구센터)

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Results 1-20 of 117 (Search time: 0.03 seconds).

No. Year Title Type
117 2021

2021Patent

유전성 강직성 하반신마비 질환 원인 신규 변이체를 동정하는 방법 및 유전 강직성 하반신마비 진단용 칩KR10-2018-0084998 (2018.07.20) / 10-2257221 (2021.05.21)조은위김남순이재란정초록정경숙김대수이다용이정주; 김완태; 이용재
Patent
116 2021

2021Patent

뚜렛증후군의 원인 유전자를 동정하는 방법KR10-2019-0070779 (2019.06.14) / 10-2250063 (2021.05.03)김남순정경숙김대수조은위; 임원희; 이정주
Patent
115 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; I Byeon, et al.
Article
114 2021

2021Article

Reduction of squalene epoxidase by cholesterol accumulation accelerates colorectal cancer progression and metastasisGastroenterology, vol. 160, 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
113 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
112 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
111 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
110 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
109 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
108 2019

2019Patent

ARL6IP1의 유전성 강직성 하반신마비의 치료 용도KR10-2017-0108108 (2017.08.25) / 10-2040893 (2019.10.30)김남순이재란정초록정경숙임정화조현수김대수
Patent
107 2019

2019Patent

대장암 전이 진단 또는 예후 예측용 조성물 및 이의 용도KR10-2017-0149017 (2017.11.09) / 10-2006999 (2019.07.29)김남순정초록이용재조현수이정주; 전수영; 최민혁; 전수진; 안준호; 민주식, et al.
Patent
106 2019

2019Article

The positive correlation of TIPRL with LC3 and CD133 contributes to cancer aggressiveness: potential biomarkers for early liver cancerScientific Reports, vol. 9, pp. 16802-16802Soo Young Jun; Su Jin Jeon; Ji Yong YoonJeong Ju LeeHyang Ran Yoon; Min Hyeok Choi; D Halder; K Lee; Nam-Soon Kim
Article
105 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
104 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
103 2019

2019Article

Spastin contributes to neural development through the regulation of microtubule dynamics in the primary cilia of neural stem cellsNeuroscience, vol. 411, pp. 76-85Bohyeon Jeong; Tae Hwan Kim; Dae Soo Kim; W H Shin; Jae-Ran LeeNam-Soon KimDa Yong Lee
Article
102 2019

2019Article

Identifying SYNE1 ataxia and extending the mutational spectrum in KoreaParkinsonism & Related Disorders, vol. 58, pp. 74-78J S Kim; A R Kim; J Youn; C Lee; Nam-Soon Kim; W Y Park; J K Park; N K D Kim; J W Cho
Article
101 2018

2018Report

희귀난치성 신경계질환 정밀의료 기술개발 = Development of Genome-based Platform Technologies for Precision Medicine of Rare Neurological Diseases연구책임자 : 김남순 / 주관부처 : 미래창조과학부김남순김대수조은위정경숙이재란이다용; 김완태; 이정주
Report
100 2018

2018Patent

조직 간 유사성 및 분화 수준에 대한 정보 제공 방법KR10-2017-0079882 (2017.06.23) / 10-1920795 (2018.11.15)김남순손미영정초록; 유제운; 조현수정경숙김대수
Patent
99 2018

2018Patent

디지털 PCR을 이용한 유전성 강직성 대마비(Hereditary spastic paraplegia, HSP) 관련 유전자 SPG4의 거대결손 검증법KR10-2017-0118643 (2017.09.15) / 10-1889072 (2018.08.09)조은위김남순이재란; 황해민; 김대수조현수정경숙정초록
Patent
98 2018

2018Article

Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegiaBiochimica et Biophysica Acta-Molecular Basis of Disease, vol. 1864, no. 10, pp. 3221-3233Jung Hwa LimHyun Mi Kang; H R Jung; Dae Soo KimKyung Hee Noh; Tae Kyung Chang; B J Kim; D H Sung; Hyun Soo ChoKyung-Sook Chung, et al.
Article
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