Pediatric Neurology
neurodevelopmental disorder
,
autism spectrum disorder
,
Movement disorders
,
hereditary encephalopathy
,
inherited myopathy
,
Mitochondrial disease
,
undiagnosed rare disease
,
epileptic and developmental encephalopathy
,
neuroimmunology
,
inflammatory myopathy
,
Peripheral neuropathy
,
Moyamoya disease
,
chromosomal disorder
,
Genetic counseling
,
Undiagnosed Rare Neurological Disease
,
Prenatal genetic diagnosis
Neuromuscular disease
,
Myopathy
,
Rett syndrome
,
Mitochondrial disease
,
neurofibromatosis
,
Tuberous sclerosis
,
Multiple sclerosis
,
Cerebral palsy
,
leukodystrophy
,
Pediatric neurological disease
,
Peripheral neuropathy
,
Development delay
,
neurodevelopmental disorder
,
genetic epilepsy
,
Neurogenetic disorder
,
Rare genetic disorder
,
undiagnosed rare disease
,
epilepsy
,
Chromosomal aberration
,
Genetic counseling
Education / Career
| Article | Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene. | ||
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| Announcements | Exp Dermatol | Date of publication | 2021 Mar 2 |
| Co-researcher | Kim HY, Song HB, Kim KH, Kim JH, Chae JH, Kim MJ, Seong MW, Ko JM. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33655605/ | ||
| Article | Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing. | ||
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| Announcements | Clin Genet. | Date of publication | 2021 Mar |
| Co-researcher | Kim SY, Jang SS, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Lim BC. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33349918/ | ||
| Article | Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions. | ||
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| Announcements | J Neurol Neurosurg Psychiatry | Date of publication | 2021 Feb 11 |
| Co-researcher | Chan SH, Chae JH, Chien YH, Ko TS, Lee JH, Lee YJ, Nam SO, Jong YJ. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33574081/ | ||
| Article | Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis. | ||
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| Announcements | Orphanet J Rare Dis | Date of publication | 2020 Dec |
| Co-researcher | Kim SY, Shim Y, Ko YJ, Park S, Jang SS, Lim BC, Kim KJ, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33298085/ | ||
| Article | Pediatric Miller Fisher Syndrome; Characteristic Presentation and Comparison with Adult Miller Fisher Syndrome. | ||
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| Announcements | J Clin Med. | Date of publication | 2020 Dec |
| Co-researcher | Jang Y, Choi JH, Chae JH, Lim BC, Kim SJ, Jung JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33287444/ | ||
| Article | Clinical outcomes of pediatric Anti-NMDA receptor encephalitis. | ||
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| Announcements | Eur J Paediatr Neurol. | Date of publication | 2020 Nov |
| Co-researcher | Shim 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. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33046392/ | ||
| Article | Novel compound heterozygous ACO2 mutations in an infant with progressive encephalopathy: A newly identified neurometabolic syndrome. | ||
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| Announcements | Brain Dev. | Date of publication | 2020 Oct |
| Co-researcher | Park JS, Kim MJ, Kim SY, Lim BC, Kim KJ, Seong MW, Lee JS, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32713659/ | ||
| Article | Clinical Spectrum of Myelin Oligodendrocyte Glycoprotein-Immunoglobulin G-Associated Disease in Korean Children. | ||
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| Announcements | J Clin Neurol | Date of publication | 2020 Jul |
| Co-researcher | Yoo IH, Kim W, Shim Y, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Kim Y, Hyun JW, Kim SH, Choi K, Kim HJ, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32657068/ | ||
| Article | De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features. | ||
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| Announcements | J Med Genet | Date of publication | 2021 Mar |
| Co-researcher | Buratti J, Ji L, Keren B, Lee Y, Booke S, Erdin S, Kim SY, Palculict TB, Meiner V, Chae JH, Woods CG, Tam A, Heron D, Cong F, Harel T. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32430360/ | ||
| Article | A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations. | ||
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| Announcements | J Clin Neurol. | Date of publication | 2020 Apr |
| Co-researcher | Han JY, Kim SY, Cheon JE, Choi M, Lee JS, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32319256/ | ||
| Article | Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. | ||
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| Announcements | Neuron | Date of publication | 2020 May 20 |
| Co-researcher | Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S; Members of Undiagnosed Diseases Network, Shillington A, Vawter-Lee M, Hopkin R, Rodriguez-Smith J, Henrickson M, Lee B, Moser AB, Jones RO, Watkins P, Yoo T, Mar S, Choi M, Bucelli RC, Yamamoto S, Lee HK, Prada CE, Chae JH, Vogel TP, Bellen HJ. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32169171/ | ||
| Article | Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes. | ||
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| Announcements | Clin Genet. | Date of publication | 2020 Apr |
| Co-researcher | Lee JS, Yoo T, Lee M, Lee Y, Jeon E, Kim SY, Lim BC, Kim KJ, Choi M, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32020600/ | ||
| Article | Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population. | ||
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| Announcements | Sci Rep | Date of publication | 2020 Jan 29 |
| Co-researcher | Lee Y, Park S, Lee JS, Kim SY, Cho J, Yoo Y, Lee S, Yoo T, Lee M, Seo J, Lee J, Kneissl J, Lee J, Jeon H, Jeon EY, Hong SE, Kim E, Kim H, Kim WJ, Kim JS, Ko JM, Cho A, Lim BC, Kim WS, Choi M, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31996704/ | ||
| Article | Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population. | ||
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| Announcements | J Clin Neurol. | Date of publication | 2020 Jan |
| Co-researcher | Kim WJ, Shim YK, Choi SA, Kim SY, Kim H, Hwang H, Choi J, Kim KJ, Chae JH, Lim BC. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31942761/ | ||
| Article | Postoperative Symptomatic Cerebral Infarction in Pediatric Moyamoya Disease: Risk Factors and Clinical Outcome. | ||
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| Announcements | World Neurosurg. | Date of publication | 2020 Apr |
| Co-researcher | Choi JW, Chong S, Phi JH, Lee JY, Kim HS, Chae JH, Lee J, Kim SK. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31870818/ | ||
| Article | Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance. | ||
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| Announcements | Muscle Nerve. | Date of publication | 2019 Dec |
| Co-researcher | Choi SA, Cho A, Kim SY, Kim WJ, Shim YK, Lee JS, Jang SS, Lim BC, Kim H, Hwang H, Choi JE, Kim KJ, Kim MJ, Seong MW, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31498906/ | ||
| Article | Chronic inflammatory demyelinating polyneuropathy: Plasmapheresis or cyclosporine can be good treatment options in refractory cases. | ||
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| Announcements | Neuromuscul Disord. | Date of publication | 2019 Sep |
| Co-researcher | Kim W, Shim YK, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31473049/ | ||
| Article | AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. | ||
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| Announcements | Nat Commun | Date of publication | 2019 Jul 12 |
| Co-researcher | Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Mannikko R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31300657/ | ||
| Article | Successful Pallidal Deep Brain Stimulation in a Patient with Childhood-Onset Generalized Dystonia with ANO3 Mutation. | ||
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| Announcements | J Mov Disord | Date of publication | 2019 Sep |
| Co-researcher | Yoo D, Kim HJ, Chae JH, Paek SH, Jeon B. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31309772/ | ||
| Article | Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies. | ||
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| Announcements | Seizure. | Date of publication | 2019 Oct |
| Co-researcher | Kim SY, Jang SS, Kim JI, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Lim BC. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31401500/ | ||
| Article | Case study of an inborn error manifested in the elderly: A woman with adult-onset mitochondrial disease mimicking systemic vasculitis. | ||
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| Announcements | Int J Rheum Dis. | Date of publication | 2019 Jun |
| Co-researcher | Lee JH, Kim MJ, Park SH, Chae JH, Shin K. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/30968563/ | ||
| Article | The Korean undiagnosed diseases program: lessons from a one-year pilot project. | ||
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| Announcements | Orphanet J Rare Dis | Date of publication | 2019 Mar |
| Co-researcher | Kim SY, Lim BC, Lee JS, Kim WJ, Kim H, Ko JM, Kim KJ, Choi SA, Kim H, Hwang H, Choi JE, Cho A, Moon J, Seong MW, Park SS, Lee YJ, Kim YO, Kim JS, Kim WS, Kwon YS, Park JD, Ahn Y, Hwang JY, Park HY, Lee Y, Choi M, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/30894207/ | ||
| Article | A 3-Month-Old Boy With Progressive Weakness. | ||
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| Announcements | Brain Pathol. | Date of publication | 2018 Sep |
| Co-researcher | Kim SY, Ko JM, Choi SA, Cho A, Lee JS, Lim BC, Kim KJ, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/30375113/ | ||
| Article | Paroxysmal Dyskinesia in Children: from Genes to the Clinic. | ||
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| Announcements | J Clin Neurol. | Date of publication | 2018 Oct |
| Co-researcher | Kim SY, Lee JS, Kim WJ, Kim H, Choi SA, Lim BC, Kim KJ, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/30198221/ | ||
| Article | BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease. | ||
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| Announcements | Genes Genomics | Date of publication | 2018 Dec |
| Co-researcher | Kim SJ, Nam SH, Kanwal S, Nam DE, Yoo DH, Chae JH, Suh YL, Chung KW, Choi BO. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/30145633/ | ||
| Article | Neuropathy, Ataxia, Retinitis Pigmentosa-like Phenotype Associated with a Mitochondrial G8363A Mutation in a Family. | ||
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| Announcements | Ann Clin Lab Sci. | Date of publication | 2018 Jul |
| Co-researcher | Kim S, Han J, Kim HA, Lim BC, Seo JE, Choi M, Kim KJ, Lee IG, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/30143501/ | ||
| Article | Development of a common platform for the noninvasive prenatal diagnosis of X-linked diseases. | ||
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| Announcements | Prenat Diagn. | Date of publication | 2018 Oct |
| Co-researcher | Jang SS, Lim BC, Yoo SK, Shin JY, Seo JS, Hwang D, Yoo KY, Chae JH, Kim JI. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/30048567/ | ||
| Article | Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis. | ||
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| Announcements | Sci Rep. | Date of publication | 2018 Jun 6 |
| Co-researcher | Jang SS, Lim BC, Yoo SK, Shin JY, Kim KJ, Seo JS, Kim JI, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/29875376/ | ||
| Article | Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability. | ||
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| Announcements | Ann Lab Med. | Date of publication | 2018 Sep |
| Co-researcher | Lee JS, Hwang H, Kim SY, Kim KJ, Choi JS, Woo MJ, Choi YM, Jun JK, Lim BC, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/29797819/ | ||
| Article | Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. | ||
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| Announcements | N Engl J Med. | Date of publication | 2018 Feb 15 |
| Co-researcher | Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/29443664/ | ||
| Article | Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. | ||
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| Announcements | Brain Dev | Date of publication | 2018 May |
| Co-researcher | Lee JS, Choi JM, Lee M, Kim SY, Lee S, Lim BC, Cheon JE, Kim IO, Kim KJ, Choi M, Seong MW, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/29439846/ | ||
| Article | Collagen VI-related myopathy: Expanding the clinical and genetic spectrum. | ||
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| Announcements | Muscle Nerve. | Date of publication | 2018 Sep |
| Co-researcher | Kim SY, Kim WJ, Kim H, Choi SA, Lee JS, Cho A, Jang SS, Lim BC, Kim KJ, Kim JI, Hahn SH, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/29406609/ | ||
| Article | Defining the phenotypic spectrum of SLC6A1 mutations. | ||
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| Announcements | Epilepsia | Date of publication | 2018 Feb |
| Co-researcher | Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap J | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/29315614/ | ||
| Article | GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. | ||
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| Announcements | Ann Neurol. | Date of publication | 2017 Sep |
| Co-researcher | Yoo Y, Jung J, Lee YN, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park SY, Wie J, Miller K, Shur N, Clow C, Ebel RS, DeBrosse SD, Henderson LB, Willaert R, Castaldi C, Tikhonova I, Bilguvar K, Mane S, Kim KJ, Hwang YS, Lee SG, So I, Lim BC, Choi HJ, Seong JY, Shin YB, Jung H, Chae JH, Choi M. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28856709/ | ||
| Article | Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. | ||
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| Announcements | Lancet. | Date of publication | 2017 Sep 23 |
| Co-researcher | McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E; Clinical Evaluator Training Group; ACT DMD Study Group. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28728956/ | ||
| Article | Findings of a 1303 Korean whole-exome sequencing study. | ||
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| Announcements | Exp Mol Med | Date of publication | 2017 Jul 14 |
| Co-researcher | Kwak SH, Chae J, Choi S, Kim MJ, Choi M, Chae JH, Cho EH, Hwang TJ, Jang SS, Kim JI, Park KS, Bang YJ. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28706299/ | ||
| Article | Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy. | ||
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| Announcements | Brain Dev. | Date of publication | 2017 Oct |
| Co-researcher | Lee JS, Seo J, Cho A, Lim BC, Choi M, Kim JW, Kim OH, Cho TJ, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28668235/ | ||
| Article | Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population. | ||
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| Announcements | Sci Rep. | Date of publication | 2017 Jun 27 |
| Co-researcher | Lee S, Seo J, Park J, Nam JY, Choi A, Ignatius JS, Bjornson RD, Chae JH, Jang IJ, Lee S, Park WY, Baek D, Choi M. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28655895/ | ||
| Article | FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy. | ||
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| Announcements | Epilepsy Res. | Date of publication | 2017 Jan |
| Co-researcher | Cho JS, Kim SH, Kim HY, Chung T, Kim D, Jang S, Lee SB, Yoo SK, Shin J, Kim JI, Kim H, Hwang H, Chae JH, Choi J, Kim KJ, Lim BC. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28043061/ | ||
| Article | Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173. | ||
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| Announcements | J Allergy Clin Immunol. | Date of publication | 2017 Apr |
| Co-researcher | Seo J, Kang JA, Suh DI, Park EB, Lee CR, Choi SA, Kim SY, Kim Y, Park SH, Ye M, Kwon SH, Park JD, Lim BC, Lee DH, Kang SJ, Choi M, Park SG, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28041677/ | ||
| Article | Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. | ||
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| Announcements | Muscle Nerve. | Date of publication | 2017 May |
| Co-researcher | Cho A, Seong MW, Lim BC, Lee HJ, Byeon JH, Kim SS, Kim SY, Choi SA, Wong AL, Lee J, Kim JS, Ryu HW, Lee JS, Kim H, Hwang H, Choi JE, Kim KJ, Hwang YS, Hong KH, Park S, Cho SI, Lee SJ, Park H, Seo SH, Park SS, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/27593222/ | ||
| Article | GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype. | ||
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| Announcements | Am J Med Genet A | Date of publication | 2016 Aug |
| Co-researcher | Lee JS, Yoo Y, Lim BC, Kim KJ, Song J, Choi M, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/27232954/ | ||
| Article | Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome. | ||
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| Announcements | J Clin Neurol | Date of publication | 2016 Aug |
| Co-researcher | Lee JS, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Hwang YS, Chae JH. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/27074294/ | ||
| Article | Prevalence of antineuronal antibodies in patients with encephalopathy of unknown etiology: Data from a nationwide registry in Korea. | ||
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| Announcements | J Neuroimmunol. | Date of publication | 2016 Apr 15 |
| Co-researcher | Byun JI, Lee ST, Jung KH, Sunwoo JS, Moon J, Kim TJ, Lim JA, Kim S, Kim DY, Han SH, Jang H, Suh HI, Cho AH, Kim DW, Shin JW, Koo YS, Choi WC, Lee WW, Choi N, Kim S, Nam H, Koo DL, Kim M, Lim BC, Chae JH, Kim KJ, Jeon D, Park KI, Jung KY, Kim M, Chu K, Lee SK. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/27049559/ | ||
| Article | Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications. | ||
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| Announcements | J Mol Diagn. | Date of publication | 2016 Mar |
| Co-researcher | Kim MJ, Cho SI, Chae JH, Lim BC, Lee JS, Lee SJ, Seo SH, Park H, Cho A, Kim SY, Kim JY, Park SS, Seong MW. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/26743743/ | ||
| Article | Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients. | ||
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| Announcements | J Hum Genet. | Date of publication | 2016 Mar |
| Co-researcher | Sohn YB, Ko JM, Shin CH, Yang SW, Chae JH, Lee KA. | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/26538304/ | ||