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Showing results 1 to 21 of 21

Issue Date	Title / Author(s) / Citation	File
2009-07	Mutations in ND Subunits of Complex I Are an Important Genetic Cause of Childhood Mitochondrial Encephalopathies Lim, Byung Chan; Park, Jun Dong; Hwang, Hee; Kim, Ki Joong; Chae, Jong-Hee; Kim, In One; Moon, Han Ku; Lee, Ran; Cheon, Jung-Eun; Hwang, Yong Seung JOURNAL OF CHILD NEUROLOGY; Vol.24 7; 828-832	DOI
2010-04	Andersen Cardiodysrhythmic Periodic Paralysis With KCNJ2 Mutations: A Novel Mutation in the Pore Selectivity Filter Residue Lim, Byung Chan; Kim, Gi Beom; Bae, Eun Jung; Noh, Chung Il; Kim, Ki Joong; Ko, Tae Sung; Chae, Jong-Hee; Hwang, Yong Seung; Hwang, Hee JOURNAL OF CHILD NEUROLOGY; Vol.25 4; 490-493	DOI
2010-05	A single large-scale deletion of mtDNA in a child with recurrent encephalopathy and tubulopathy Chae, Jong-Hee; Lim, Byung Chan; Cheong, Hae Il; Hwang, Yong Seung; Hwang, Hee; Kim, Ki Joong JOURNAL OF THE NEUROLOGICAL SCIENCES; Vol.292 01월 02일; 104-106	DOI
2010-06	Clinical Presentations and Neurodevelopmental Outcomes of Perinatal Stroke in Preterm and Term Neonates: A Case Series Lee, Hyun Ju; Lim, Byung Chan; Hwang, Hee; Hong, Joon-Seok; Kim, Han-Suk; Choi, Jung-Hwan; Choi, Chang Won; Kim, Beyong Il; Kim, Ee-Kyung JOURNAL OF KOREAN MEDICAL SCIENCE; Vol.25 6; 888-894	view file DOI
2010-06	Cerebellum Can Be a Possible Generator of Progressive Myoclonus Koh, Kyung Nam; Lim, Byung Chan; Hwang, Hee; Park, June Dong; Kim, Ki Joong; Kim, Seung-Ki; Moon, Han Ku; Wang, Kyu-Chang; Hwang, Yong-Seung; Chae, Jong Hee JOURNAL OF CHILD NEUROLOGY; Vol.25 6; 728-731	DOI
2010-06	A 13-YEAR-OLD GIRL WITH PROXIMAL WEAKNESS AND HYPERTROPHIC CARDIOMYOPATHY WITH DANON DISEASE Kim, Hunmin; Cho, Anna; Lim, Byung Chan; Kim, Min Jung; Nishino, Ichizo; Chae, Jong-Hee; Hwang, Yong Seung; Kim, Ki Joong MUSCLE & NERVE; Vol.41(6); 879-882	DOI
2010-08	Ischemic Stroke in a 7-Month-Old Infant With Antiphospholipid Antibody and Homozygous C677T Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism Kim, Se Hee; Hwang, Hee; Chae, Jong Hee; Kim, Ki Joong; Lim, Byung Chan; Hwang, Yong Seung JOURNAL OF CHILD NEUROLOGY; Vol.25 8; 1047-1050	DOI
2013-09	A Case of Japanese Encephalitis Presenting with Fever and Seizure in a 7-month old Infant Kim, Soo Yeon; Kim, Jon Soo; Lee, Hyun Ju; Kim, Hunmin; Lim, Byung Chan; Hwang, Hee; Chae, Jong-Hee; Choi, Jieun; Kim, Ki Joong; Hwang, Yong Seung 대한소아신경학회지 Vol.21 No.3, pp. 170-175	view file
2017-05	CONSECUTIVE ANALYSIS OF MUTATION SPECTRUM IN THE DYSTROPHIN GENE OF 507 KOREAN BOYS WITH DUCHENNE/BECKER MUSCULAR DYSTROPHY IN A SINGLE CENTER Cho, Anna; Seong, Moon-Woo; Lim, Byung Chan; Lee, Hwa Jeen; Byeon, Jung Hye; Kim, Seung Soo; Kim, Soo Yeon; Choi, Sun Ah; Wong, Ai-Lynn; Lee, Jeongho; Kim, Jon Soo; Ryu, Hye Won; Lee, Jin Sook; Kim, Hunmin; Hwang, Hee; Choi, Ji Eun; Kim, Ki Joong; Hwang, Young Seung; Hong, Ki Ho; Park, Seungman; Cho, Sung Im; Lee, Seung Jun; Park, Hyunwoong; Seo, Soo Hyun; Park, Sung Sup; Chae, Jong Hee Muscle and Nerve, Vol.55 No.5, pp.727-734	DOI
2019-03	The Korean undiagnosed diseases program: lessons from a one-year pilot project Kim, Soo Yeon; Lim, Byung Chan; Lee, Jin Sook; Kim, Woo Joong; Kim, Hyuna; Ko, Jung Min; Kim, Ki Joong; Choi, Sun Ah; Kim, Hunmin; Hwang, Hee; Choi, Ji Eun; Cho, Anna; Moon, Jangsup; Seong, Moon Woo; Park, Sung Sup; Lee, Yun Jeong; Kim, Young Ok; Kim, Jon Soo; Kim, Won Seop; Kwon, Young Se; Park, June Dong; Ahn, Younjhin; Hwang, Joo-Yeon; Park, Hyun-Young; Lee, Youngha; Choi, Murim; Chae, Jong-Hee Orphanet Journal of Rare Diseases. 2019 Mar 20;14(1):68	view file DOI
2019-05	Association of tumor necrosis factor-α gene promotor variant, not interleukin-10, with febrile seizures and genetic epilepsy with febrile seizure plus Choi, Jieun; Choi, Sun Ah; Kim, Soo Yeon; Kim, Hunmin; Lim, Byung Chan; Hwang, Hee; Chae, Jong Hee; Kim, Ki Joong; Oh, Sohee; Shin, Jeon-Soo Annals of Child Neurology, Vol.27 No.2, pp.38-45	DOI
2019-09	Chronic inflammatory demyelinating polyneuropathy: Plasmapheresis or cyclosporine can be good treatment options in refractory cases Kim, WooJoong; Shim, Young Kyu; Choi, Sun Ah; Kim, Soo Yeon; Kim, Hunmin; Lim, Byung Chan; Hwang, Hee; Choi, Jieun; Kim, Ki Joong; Chae, Jong-Hee Neuromuscular Disorders, Vol.29 No.9, pp.684-692	DOI
2019-10	Elevated Serum Uric Acid in Benign Convulsions with Mild Gastroenteritis in Children Yoo, Il Han; Kim, Woojoong; Cho, Jaeso; Kim, Hunmin; Lim, Byung Chan; Hwang, Hee; Chae, Jong-Hee; Choi, Jieun; Kim, Ki Joong Journal of Clinical Neurology, Vol.15 No.4, pp.496-501	DOI
2020-03	Serum α-synuclein and IL-1β are increased and correlated with measures of disease severity in children with epilepsy: potential prognostic biomarkers? Choi, Jieun; Kim, Soo Yeon; Kim, Hunmin; Lim, Byung Chan; Hwang, Hee; Chae, Jong Hee; Kim, Ki Joong; Oh, Sohee; Kim, Eun Young; Shin, Jeon-Soo BMC Neurology, 20(1):85	view file DOI
2020-12	Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis Kim, Soo Yeon; Shim, YoungKyu; Ko, Young Joon; Park, Soojin; Jang, Se Song; Lim, Byung Chan; Kim, Ki Joong; Chae, Jong-Hee Orphanet Journal of Rare Diseases. 2020 Dec 09;15(1):343	view file link
2022-01	Clinico-radiological characteristics of anti-myelin oligodendrocyte glycoprotein antibody-associated autoimmune encephalitis in children Han, Ji Yeon; Kim, Soo Yeon; Kim, Hunmin; Hwang, Hee; Choi, Jieun; Chae, Jong-Hee; Kim, Ki Joong; Cheon, Jung-Eun; Lim, Byung Chan Developmental Medicine and Child Neurology	DOI
2022-07	The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder Lee, Seungbok; Jang, Se Song; Park, Soojin; Yoon, Jihoon G.; Kim, Soo Yeon; Lim, Byung Chan; Chae, Jong Hee Frontiers in Pediatrics, Vol.10, p. 960450	DOI
2022-07	Whole genomic approach in mutation discovery of infantile spasms patients Lee, Seungbok; Jang, Sesong; Kim, Jong-Il; Chae, Jong Hee; Kim, Ki Joong; Lim, Byung Chan Frontiers in Neurology, Vol.13, p. 944905	DOI
2022-08	Fatal systemic disorder caused by biallelic variants in FARSA Kim, Soo Yeon; Ko, Saebom; Kang, Hyunook; Kim, Man Jin; Moon, Jangsup; Lim, Byung Chan; Kim, Ki Joong; Choi, Murim; Choi, Hee-Jung; Chae, Jong-Hee Orphanet Journal of Rare Diseases, Vol.17 No.1, p. 306	DOI
2022-08	Fatal systemic disorder caused by biallelic variants in FARSA Kim, Soo Yeon; Ko, Saebom; Kang, Hyunook; Kim, Man Jin; Moon, Jangsup; Lim, Byung Chan; Kim, Ki Joong; Choi, Murim; Choi, Hee-Jung; Chae, Jong-Hee Orphanet Journal of Rare Diseases, 17(1):306	view file link
2022-09	Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases Park, Soojin; Jang, Se Song; Lee, Seungbok; Kim, Minsoo; Sim, Hyungtai; Jeon, Hyeongseok; Hong, Sung Eun; Lee, Jean; Lee, Jeongeun; Jeon, Eun Young; Lee, Jeongha; Lee, Cho-Rong; Kim, Soo Yeon; Kim, Man Jin; Yoon, Jihoon G.; Lim, Byung Chan; Kim, Woo Joong; Kim, Ki Joong; Ko, Jung Min; Cho, Anna; Lee, Jin Sook; Choi, Murim; Chae, Jong-Hee Frontiers in Genetics, Vol.13, p. 990015	DOI

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