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CLIN GENET 2024 10.1111/cge.14523
Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years
Hwang, N; Kim, SM; Kim, YG; Ha, C; Lee, J; Choi, BO; Sung, WJ; Kim, SH; Kim, YM; Lee, YW; Kim, J; Kim, JW; Jang, JH; Lee, J; Park, HD
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FRONT NEUROL 2023 10.3389/fneur.2023.1294028
Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea
Cho, JS; Lee, JW; Kim, J; Lee, HYJ; Kim, MJ; Lee, YJ; Yum, MS; Byun, JH; Lee, CG; Lee, YM; Lee, JH; Chae, JH
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J KOREAN MED SCI 2023 10.3346/jkms.2023.38.e358
Complications of the Central Nervous System in Pediatric Patients With Common Cold Coronavirus Infection During 2014-2019
Park, H; Kim, KR; Huh, HJ; Yoon, Y; Park, E; Cho, JB; Lee, JW; Lee, JH; Kim, JH; Kim, YJ
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FRONT PEDIATR 2023 10.3389/fped.2023.1204360
Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important
Choi, HB; Na, Y; Lee, J; Lee, J; Jang, JH; Kim, JW; Kwon, JY
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PEDIATR NEUROL 2023 10.1016/j.pediatrneurol.2023.09.003
Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing
Shin, S; Lee, J; Kim, YG; Ha, C; Park, JH; Kim, JW; Lee, J; Jang, JH
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EPILEPSIA OPEN 2023 10.1002/epi4.12708
PRRT2-positive self-limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers
Lee, JW; Kim, YO; Lim, BC; Lee, J
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EPILEPSIA 2022 10.1111/epi.17407
The longitudinal effect of oxcarbazepine on thyroid function in children and adolescents with epilepsy
Park, H; Heo, J; Kim, MJ; Lee, JH; Kim, MS; Jin, DK; Kim, TH; Chung, JH; Cho, SY; Kim, SW
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INT J MOL SCI 2022 10.3390/ijms23169059
A New Method of Myostatin Inhibition in Mice via Oral Administration of Lactobacillus casei Expressing Modified Myostatin Protein, BLS-M22
Sung, DK; Kim, H; Park, SE; Lee, J; Kim, JA; Park, YC; Jeon, HB; Chang, JW; Lee, J
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FRONT NEUROL 2022 10.3389/fneur.2022.836954
Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability
Lee, JW; Shamim, A; Park, J; Jang, JH; Kim, JH; Kwon, JY; Kim, JW; Kim, KK; Lee, JH
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BRAIN 2022 10.1093/brain/awab327
Assessing the landscape of STXBP1-related disorders in 534 individuals
Xian, JL; Parthasarathy, S; Ruggiero, SM; Balagura, G; Fitch, E; Helbig, K; Gan, J; Ganesan, S; Kaufman, MC; Ellis, CA; Lewis-Smith, D; Galer, P; Cunningham, K; O'Brien, M; Cosico, M; Baker, K; Darling, A; de Goes, FV; El Achkar, CM; Doering, JH; Furia, F; Garcia-Cazorla, A; Gardella, E; Geertjens, L; Klein, C; Kolesnik-Taylor, A; Lammertse, H; Lee, J; Mackie, A; Misra-Isrie, M; Olson, H; Sexton, E; Sheidley, B; Smith, L; Sotero, L; Stamberger, H; Syrbe, S; Thalwitzer, KM; van Berkel, A; van Haelst, M; Yuskaitis, C; Weckhuysen, S; Prosser, B; Rigby, CS; Demarest, S; Pierce, S; Zhang, YH; Moller, RS; Bruining, H; Poduri, A; Zara, F; Verhage, M; Striano, P; Helbig, I
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PEDIATR INFECT DIS J 2021 10.1097/INF.0000000000003332
Influenza-associated Neurologic Complications in Hospitalized Pediatric Patients A Multicenter Retrospective Study in Republic of Korea
Choi, GJ; Park, JY; Choi, JS; Choi, SR; Kim, D; Lee, JH; Woo, YJ; Lee, J; Kim, YJ
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SCI REP-UK 2021 10.1038/s41598-021-02262-7
Nanoplasmonic immunosensor for the detection of SCG2, a candidate serum biomarker for the early diagnosis of neurodevelopmental disorder
Lim, SH; Sung, YJ; Jo, N; Lee, NY; Kim, KS; Lee, D; Kim, NS; Lee, J; Byun, JY; Shin, YB; Lee, JR
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J NEUROL NEUROSUR PS 2021 10.1136/jnnp-2020-324532
Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions
Chan, SHS; Chae, JH; Chien, YH; Ko, TS; Lee, JH; Lee, YJ; Nam, SO; Jong, YJ
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BIOMEDICINES 2021 10.3390/biomedicines9091089
Wharton's Jelly-Derived Mesenchymal Stem Cells Reduce Fibrosis in a Mouse Model of Duchenne Muscular Dystrophy by Upregulating microRNA 499
Park, SE; Bin Jeong, J; Oh, SJ; Kim, SJ; Kim, H; Choi, A; Choi, SJ; Oh, SY; Ha Ryu, G; Lee, J; Jeon, HB; Chang, JW
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EXP NEUROBIOL 2021 10.5607/en21008
Altered Gene Expression Profiles in Neural Stem Cells Derived from Duchenne Muscular Dystrophy Patients with Intellectual Disability
Koo, J; Park, S; Sung, SE; Lee, J; Kim, DS; Lee, J; Lee, JR; Kim, NS; Lee, DY
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ANN CLIN TRANSL NEUR 2021 10.1002/acn3.51321
Successful weaning from mechanical ventilation in a patient with SMA type 1 treated with nusinersen
Lee1, J; Park, SE; Lee, D; Song, JY; Lee, J
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FRONT GENET 2021 10.3389/fgene.2020.543528
Genomic Analysis of Korean Patient With Microcephaly
Lee1, J; Park, JE; Lee, C; Kim, AR; Kim, BJ; Park, WY; Ki, CS; Lee, J
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FRONT GENET 2021 10.3389/fgene.2020.590924
Characteristics of Genetic Variations Associated With Lennox-Gastaut Syndrome in Korean Families
Yang1, JO; Choi, MH; Yoon, JY; Lee, JJ; Nam, SO; Jun, SY; Kwon, HH; Yun, S; Jeon, SJ; Byeon, I; Halder, D; Kong, J; Lee, B; Lee, J; Kang, JW; Kim, NS
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EUR J PAEDIATR NEURO 2020 10.1016/j.ejpn.2020.10.001
Clinical outcomes of pediatric Anti-NMDA receptor encephalitis
Shim1, Y; Kim, SY; Kim, H; Hwang, H; Chae, JH; Choi, J; Kim, KJ; Yum, MS; Ko, TS; Kim, YO; Byeon, JH; Lee, J; Lee, J; Kim, JS; Lim, BC
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INT J MOL SCI 2020 10.3390/ijms21176269
Anti-Fibrotic Effect of Human Wharton's Jelly-Derived Mesenchymal Stem Cells on Skeletal Muscle Cells, Mediated by Secretion of MMP-1
Choi1, A; Park, SE; Jeong, JB; Choi, SJ; Oh, SY; Ryu, GH; Lee, J; Jeon, HB; Chang, JW
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ANN CLIN LAB SCI 2020
Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing
Lee1, J; Lee, C; Park, WY; Lee, J
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MOL GENET GENOM MED 2020 10.1002/mgg3.1376
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy
Lee1, J; Lee, C; Ki, CS; Lee, J
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BRAIN DEV-JPN 2019 10.1016/j.braindev.2018.12.007
The ketogenic diet for super-refractory status epilepticus patients in intensive care units
Park1, EG; Lee, J; Lee, J
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J KOREAN NEUROSURG SOC 2019 10.3340/jkns.2019.0099
Antiepileptic Drugs in Children : Current Concept
Lee1, J
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PLoS One 2018 10.1371/journal.pone.0199321
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes
Lee1, CG; Lee, J; Lee, M
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BRAIN DEV-JPN 2018 10.1016/j.braindev.2017.07.008
Hashimoto encephalopathy in pediatric patients: Homogeneity in clinical presentation and heterogeneity in antibody titers
Lee1, J; Yu, HJ; Lee, J
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SLEEP BREATH 2017 10.1007/s11325-017-1545-y
Clinical and polysomnographic characteristics of excessive daytime sleepiness in children
Lee1, J; Na, G; Joo, EY; Lee, M; Lee, J
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J MATERN-FETAL NEO M 2017 10.1080/14767058.2016.1243097
Comparison of antibiotic regimens in preterm premature rupture of membranes: neonatal morbidity and 2-year follow-up of neurologic outcome
Chang1, KHJ; Kim, HJ; Yu, HJ; Lee, J; Kim, JS; Choi, SJ; Oh, SY; Roh, CR; Kim, JH
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KOREAN J RADIOL 2017 10.3348/kjr.2017.18.4.729
Value of Repeat Brain MRI in Children with Focal Epilepsy and Negative Findings on Initial MRI
Jeon1, TY; Kim, JH; Lee, J; Yoo, SY; Hwang, SM; Lee, M
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J Clin Neurol. 2017 Jan;13(1):47-54. doi: 10.3988/jcn.2017.13.1.47. Epub 2016 Oct 7.
Desensitization to Oxcarbazepine: Long-Term Efficacy and Tolerability
Lee J11, Park EG1, Lee M1, Lee J2.
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Ann Lab Med. 2017 Jan;37(1):66-70. doi: 10.3343/alm.2017.37.1.66.
Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome
Lee MN11, Lee J2, Yu HJ2, Lee J2, Kim SH3.
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Ann Clin Lab Sci. 2016 May;46(3):302-7.
First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review
Park EG11, Cho SY2, Lee J1, Kim J1, Cho H1, Kim J1, Huh R1, Ki CS3, Kim OH4, Jin DK5.
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Biomaterials. 2016 Mar;81:93-103. doi: 10.1016/j.biomaterials.2015.12.007. Epub 2015 Dec 15.
Self-adjuvanted hyaluronate - antigenic peptide conjugate for transdermal treatment of muscular dystrophy
Kong WH11, Sung DK2, Kim H1, Yang JA1, Ieronimakis N3, Kim KS4, Lee J2, Kim DH3, Yun SH4, Hahn SK5.
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Brain Dev. 2016 Jan;38(1):139-41. doi: 10.1016/j.braindev.2015.06.003. Epub 2015 Jun 28.
Narcolepsy in a three-year-old girl: A case report
Park EG11, Lee J1, Joo EY2, Lee M1, Lee J3.
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Orphanet J Rare Dis. 2015 Oct 31;10:141. doi: 10.1186/s13023-015-0356-0.
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II
Cho SY11, Lee J1, Ko AR2, Kwak MJ3, Kim S4, Sohn YB5, Park SW6, Jin DK7.
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Epilepsy Behav. 2015 Jul;48:83-7. doi: 10.1016/j.yebeh.2015.05.029. Epub 2015 Jun 11.
Paroxysmal nonepileptic events in pediatric patients
Park EG11, Lee J1, Lee BL2, Lee M1, Lee J3.
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Biol Blood Marrow Transplant. 2015 Jun;21(6):1091-8. doi: 10.1016/j.bbmt.2015.02.007. Epub 2015 Feb 21.
Neurologic Complications after Allogeneic Hematopoietic Stem Cell Transplantation in Children: Analysis of Prognostic Factors
Kang JM11, Kim YJ1, Kim JY1, Cho EJ1, Lee JH1, Lee MH1, Lee SH1, Sung KW1, Koo HH1, Yoo KH2.
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Brain Dev. 2015 Apr;37(4):432-8. doi: 10.1016/j.braindev.2014.07.005. Epub 2014 Jul 30.
The natural course of clinically isolated syndrome in pediatric patients
Lee CG11, Lee B2, Lee J3, Lee M4.
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Pediatr Neurol.?2014 Aug;51(2):207-14. doi: 10.1016/j.pediatrneurol.2014.03.021. Epub 2014 Mar 27.
Human Leukocyte Antigen Genotypes and Trial of Desensitization in Patients With Oxcarbazepine-Induced Skin Rash: A Pilot Study
Lee B11,?Yu HJ2,?Kang ES3,?Lee M2,?Lee J4.
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J Child Neurol. 2014 Jul;29(7):938-42. doi: 10.1177/0883073813499823. Epub 2013 Sep 20.
Clinical Manifestations and Treatment Response of Steroid in Pediatric Hashimoto Encephalopathy
Yu HJ11, Lee J1, Seo DW2, Lee M3.
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Ann Clin Lab Sci.?2014 Spring;44(2):213-6.
A Korean Patient with Glutaric Aciduria Type 1 with a Novel Mutation in the Glutaryl CoA Dehydrogenase Gene
Kim HS11,?Yu HJ,?Lee J,?Park HD,?Kim JH,?Shin HJ,?Jin DK,?Lee M.
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Eur J Nutr.?2014;53(2):683-8. doi: 10.1007/s00394-013-0558-y. Epub 2013 Jul 24.
Iodine status in Korean preschool children as determined by urinary iodine excretion
Lee J1,?Kim JH,?Lee SY,?Lee JH.
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J Clin Neurol. 2014 Jan;10(1):50-4. doi: 10.3988/jcn.2014.10.1.50. Epub 2014 Jan 6.
Clinical Manifestations in Paroxysmal Kinesigenic Dyskinesia Patients with Pro line-Rich Transmembrane Protein 2 Gene Mutation
Youn J11, Kim JS2, Lee M3, Lee J3, Roh H2, Ki CS4, Choa JW1.
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Brain Dev.?2013 Sep;35(8):821-6. doi: 10.1016/j.braindev.2013.06.014. Epub 2013 Jul 12.
Prognostic factors of infantile spasms: Role of treatment options including a ketogenic diet
Lee J11,?Lee JH,?Yu HJ,?Lee M.
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Am J Med Genet A. 2013 May;161A(5):1036-43. doi: 10.1002/ajmg.a.35869. Epub 2013 Mar 25.
Improvement of CNS Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type II Mice
Sohn YB11, Lee J, Cho SY, Kim SJ, Ko AR, Nam MH, Jin DK.
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Pediatr Neurol.?2013 May;48(5):411-4. doi: 10.1016/j.pediatrneurol.2012.12.033.
Identification of DCX Gene Mutation in Lissencephaly Spectrum With Subcortical Band Heterotopia Using Whole Exome Sequencing
Jang MA11,?Woo HI,?Kim JW,?Lee J,?Ki CS.
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Childs Nerv Syst.?2012 Nov;28(11):1837-41. doi: 10.1007/s00381-012-1869-7. Epub 2012 Jul 31.
A successful treatment of arterial ischemic stroke with stent insertion in a child with congenital heart disease
Yu HJ11,?Kang IS,?Lee M,?Kim KH,?Lee J.
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J?Child?Neurol.?2012 Oct;27(10):1343-7. Epub 2012 May 7.
Recurrent Acute Necrotizing Encephalopathy in a Korean Child: The First Non-Caucasian Case
Lee JH11,?Lee M,?Lee J.
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J Child Neurol. 2012 Mar;27(3):319-24. doi: 10.1177/0883073811420295. Epub 2011 Sep 22.
Infantile Pompe Disease: Clinical and Genetic Characteristics With an Experience of Enzyme Replacement Therapy
Cho A11, Kim SJ, Lim BC, Hwang H, Park JD, Kim GB, Jin DK, Lee J, Ki CS, Kim KJ, Hwang YS, Chae JH.
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J Korean Med Sci.?2012 Mar;27(3):274-80. doi: 10.3346/jkms.2012.27.3.274. Epub 2012 Feb 23.
Genetic Analysis of Dystrophin Gene for Affected Male and Female Carriers with Duchenne/Becker Muscular Dystrophy in Korea
Lee BL11,?Nam SH,?Lee JH,?Ki CS,?Lee M,?Lee J.
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Epilepsia.?2011 Nov;52(11):e181-4. doi: 10.1111/j.1528-1167.2011.03289.x. Epub 2011 Oct 17.
The role of ketogenic diet in the treatment of refractory status epilepticus
Nam SH11,?Lee BL,?Lee CG,?Yu HJ,?Joo EY,?Lee J,?Lee M.
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Muscle Nerve.?2009 Nov;40(5):855-9. doi: 10.1002/mus.21340.
CLINICAL AND GENETIC ANALYSIS OF KOREAN PATIENTS WITH CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS
Lee ST11,?Lee J,?Lee M,?Kim JW,?Ki CS.
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Brain Dev.?2009 Oct;31(9):671-81. doi: 10.1016/j.braindev.2008.10.002. Epub 2008 Dec 5.
Dysembryoplastic neuroepithelial tumors in pediatric patients
Lee J11,?Lee BL,?Joo EY,?Seo DW,?Hong SB,?Hong SC,?Suh YL,?Lee M.
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J Neurol Sci.?2009 Jun 15;281(1-2):122-4. doi: 10.1016/j.jns.2009.02.373. Epub 2009 Mar 25.
Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy
Lee J11,?Lee BL,?Lee M,?Kim JH,?Kim JW,?Ki CS.
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Atypical basal ganglia germinoma presenting as cerebral hemiatrophy: diagnosis and follow-up with C-11-methionine positron emission tomography
