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Items: 1 to 50 of 347

1.

Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features.

Kim H, Lee JS, Lee Y, Kim SY, Lim BC, Kim KJ, Choi M, Chae JH.

Yonsei Med J. 2019 Dec;60(12):1209-1215. doi: 10.3349/ymj.2019.60.12.1209.

2.

Changes in Global and Nodal Networks in Patients With Unipolar Depression After 3-Week Repeated Transcranial Magnetic Stimulation Treatment.

Jang KI, Shim M, Lee S, Hwang HJ, Chae JH.

Front Psychiatry. 2019 Oct 9;10:686. doi: 10.3389/fpsyt.2019.00686. eCollection 2019.

3.

Association Analysis of Interleukin-1β, Interleukin-6, and HMGB1 Variants with Postictal Serum Cytokine Levels in Children with Febrile Seizure and Generalized Epilepsy with Febrile Seizure Plus.

Choi J, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Oh S, Kim EY, Shin JS.

J Clin Neurol. 2019 Oct;15(4):555-563. doi: 10.3988/jcn.2019.15.4.555.

4.

Elevated Serum Uric Acid in Benign Convulsions with Mild Gastroenteritis in Children.

Yoo IH, Kim W, Cho J, Kim H, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ.

J Clin Neurol. 2019 Oct;15(4):496-501. doi: 10.3988/jcn.2019.15.4.496.

5.

Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.

Jang SS, Kim SY, Kim H, Hwang H, Chae JH, Kim KJ, Kim JI, Lim BC.

Front Neurol. 2019 Sep 13;10:988. doi: 10.3389/fneur.2019.00988. eCollection 2019.

6.

Anxiety and Depression of the Patients with Hematological Malignancies during Hospitalization for Hematopoietic Stem Cell Transplantation.

Seo HJ, Baek YG, Cho BS, Kim TS, Um YH, Chae JH.

Psychiatry Investig. 2019 Oct;16(10):751-758. doi: 10.30773/pi.2019.07.12. Epub 2019 Sep 30.

7.

Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.

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.

Muscle Nerve. 2019 Dec;60(6):668-672. doi: 10.1002/mus.26700. Epub 2019 Sep 30.

PMID:
31498906
8.

Dynamics of driftless preconcentration using ion concentration polarization leveraged by convection and diffusion.

Baek S, Choi J, Son SY, Kim J, Hong S, Kim HC, Chae JH, Lee H, Kim SJ.

Lab Chip. 2019 Oct 7;19(19):3190-3199. doi: 10.1039/c9lc00508k. Epub 2019 Sep 2.

PMID:
31475274
9.

Chronic inflammatory demyelinating polyneuropathy: Plasmapheresis or cyclosporine can be good treatment options in refractory cases.

Kim W, Shim YK, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Chae JH.

Neuromuscul Disord. 2019 Sep;29(9):684-692. doi: 10.1016/j.nmd.2019.06.010. Epub 2019 Jun 19.

PMID:
31473049
10.

Reliability and Validity of the Korean Version of Clinician-Administered Posttraumatic Stress Disorder Scale for DSM-5.

Kim WH, Jung YE, Roh D, Kim D, Kang SH, Chae JH, Park JE.

J Korean Med Sci. 2019 Aug 19;34(32):e219. doi: 10.3346/jkms.2019.34.e219.

11.

Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies.

Kim SY, Jang SS, Kim JI, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Lim BC.

Seizure. 2019 Oct;71:222-228. doi: 10.1016/j.seizure.2019.07.024. Epub 2019 Jul 31.

PMID:
31401500
12.

Identifying depression in the National Health and Nutrition Examination Survey data using a deep learning algorithm.

Oh J, Yun K, Maoz U, Kim TS, Chae JH.

J Affect Disord. 2019 Oct 1;257:623-631. doi: 10.1016/j.jad.2019.06.034. Epub 2019 Jul 4.

PMID:
31357159
13.

The Efficacy of Miniaturized Repetitive Transcranial Magnetic Stimulation in Patients with Depression.

Lee S, Jang KI, Yoon S, Chae JH.

Clin Psychopharmacol Neurosci. 2019 Aug 31;17(3):409-414. doi: 10.9758/cpn.2019.17.3.409.

14.

Posttraumatic Symptoms and Change of Complicated Grief among Bereaved Families of the Sewol Ferry Disaster: One Year Follow-up Study.

Han H, Yun JA, Huh HJ, Huh S, Hwang J, Joo JY, Yoon YA, Shin EG, Choi WJ, Lee S, Chae JH.

J Korean Med Sci. 2019 Jul 22;34(28):e194. doi: 10.3346/jkms.2019.34.e194.

15.

Successful Pallidal Deep Brain Stimulation in a Patient with Childhood-Onset Generalized Dystonia with ANO3 Mutation.

Yoo D, Kim HJ, Chae JH, Paek SH, Jeon B.

J Mov Disord. 2019 Sep;12(3):190-191. doi: 10.14802/jmd.19016. Epub 2019 Jul 17. No abstract available.

16.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

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, Männikkö 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, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.

Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.

17.

A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome.

Lee JS, Lim BC, Kim KJ, Kim SK, Kim OH, Kim JG, Park SG, Cho TJ, Chae JH.

J Clin Neurol. 2019 Jul;15(3):407-409. doi: 10.3988/jcn.2019.15.3.407. No abstract available.

18.

Three Weeks of rTMS Treatment Maintains Clinical Improvement But Not Electrophysiological Changes in Patients With Depression: A 6-Week Follow-Up Pilot Study.

Choi KM, Choi SH, Lee SM, Jang KI, Chae JH.

Front Psychiatry. 2019 Jun 7;10:351. doi: 10.3389/fpsyt.2019.00351. eCollection 2019.

19.

Novel and Private EDA Mutations and Clinical Phenotypes of Korean Patients with X-Linked Hypohidrotic Ectodermal Dysplasia.

Park JS, Ko JM, Chae JH.

Cytogenet Genome Res. 2019;158(1):1-9. doi: 10.1159/000500214. Epub 2019 May 24.

PMID:
31129666
20.

Erratum: Correction of Error in Result: Urological Problems in Patients with Menkes Disease.

Kim MY, Kim JH, Cho MH, Choi YH, Kim SH, Im YJ, Park K, Kang HG, Chae JH, Cheong HI.

J Korean Med Sci. 2019 May 27;34(20):e154. doi: 10.3346/jkms.2019.34.e154.

21.

Satellite lesions of DNET: implications for seizure and tumor control after resection.

Yang J, Kim SK, Kim KJ, Chae JH, Lim BC, Wang KC, Park SH, Phi JH.

J Neurooncol. 2019 Jul;143(3):437-445. doi: 10.1007/s11060-019-03174-3. Epub 2019 May 3.

PMID:
31054098
22.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2019 May 2;10(1):2079. doi: 10.1038/s41467-019-10161-9.

23.

Sleep problems as a risk factor for suicide: Are certain specific sleep domains associated with increased suicide risk?

Tae H, Jeong BR, Chae JH.

J Affect Disord. 2019 Jun 1;252:182-189. doi: 10.1016/j.jad.2019.04.053. Epub 2019 Apr 8.

PMID:
30986733
24.

Identifying Pathogenic Variants of Monogenic Diabetes Using Targeted Panel Sequencing in an East Asian Population.

Park SS, Jang SS, Ahn CH, Kim JH, Jung HS, Cho YM, Lee YA, Shin CH, Chae JH, Kim JH, Choi SH, Jang HC, Bae JC, Won JC, Kim SH, Kim JI, Kwak SH, Park KS.

J Clin Endocrinol Metab. 2019 Apr 12. pii: jc.2018-02397. doi: 10.1210/jc.2018-02397. [Epub ahead of print]

PMID:
30977832
25.

Case study of an inborn error manifested in the elderly: A woman with adult-onset mitochondrial disease mimicking systemic vasculitis.

Lee JH, Kim MJ, Park SH, Chae JH, Shin K.

Int J Rheum Dis. 2019 Jun;22(6):1152-1156. doi: 10.1111/1756-185X.13575. Epub 2019 Apr 10.

PMID:
30968563
26.

Hyperammonemia in a case of herpes simplex and anti-N-methyl-d-aspartate receptor encephalitis.

Ko JM, Kim WJ, Kim SY, Lee JH, Chae JH, Kim KJ, Lim BC.

Brain Dev. 2019 Aug;41(7):634-637. doi: 10.1016/j.braindev.2019.03.013. Epub 2019 Apr 5.

PMID:
30961960
27.

The Korean undiagnosed diseases program: lessons from a one-year pilot project.

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.

Orphanet J Rare Dis. 2019 Mar 20;14(1):68. doi: 10.1186/s13023-019-1041-5. Review.

28.

Clinical Experience with Perampanel in Intractable Focal Epilepsy Over 12 Months of Follow-Up.

Kim SY, Kim WJ, Kim H, Choi SA, Lim BC, Chae JH, Kim KJ.

J Epilepsy Res. 2018 Dec 31;8(2):61-65. doi: 10.14581/jer.18010. eCollection 2018 Dec.

29.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2019 Feb 15;10(1):883. doi: 10.1038/s41467-019-08800-2.

30.

Unsuccessful reduction of high-frequency alpha activity during cognitive activation in schizophrenia.

Jang KI, Oh J, Jung W, Lee S, Kim S, Huh S, Lee SH, Chae JH.

Psychiatry Clin Neurosci. 2019 Mar;73(3):132-139. doi: 10.1111/pcn.12818. Epub 2019 Feb 18.

PMID:
30628145
31.

Urological Problems in Patients with Menkes Disease.

Kim MY, Kim JH, Cho MH, Choi YH, Kim SH, Im YJ, Park K, Kang HG, Chae JH, Cheong HI.

J Korean Med Sci. 2018 Dec 26;34(1):e4. doi: 10.3346/jkms.2019.34.e4. eCollection 2019 Jan 7. Erratum in: J Korean Med Sci. 2019 May 27;34(20):e154.

32.

Antiepileptic Drug Withdrawal after Surgery in Children with Focal Cortical Dysplasia: Seizure Recurrence and Its Predictors.

Choi SA, Kim SY, Kim WJ, Shim YK, Kim H, Hwang H, Choi JE, Lim BC, Chae JH, Chong S, Lee JY, Phi JH, Kim SK, Wang KC, Kim KJ.

J Clin Neurol. 2019 Jan;15(1):84-89. doi: 10.3988/jcn.2019.15.1.84.

33.

A Brief Screening Tool for PTSD: Validation of the Korean Version of the Primary Care PTSD Screen for DSM-5 (K-PC-PTSD-5).

Jung YE, Kim D, Kim WH, Roh D, Chae JH, Park JE.

J Korean Med Sci. 2018 Dec 11;33(52):e338. doi: 10.3346/jkms.2018.33.e338. eCollection 2018 Dec 24.

34.

Frontal Alpha Asymmetry, Heart Rate Variability, and Positive Resources in Bereaved Family Members with Suicidal Ideation after the Sewol Ferry Disaster.

Jang KI, Lee S, Lee SH, Chae JH.

Psychiatry Investig. 2018 Dec;15(12):1168-1173. doi: 10.30773/pi.2018.09.16. Epub 2018 Dec 7.

35.

dCas9-mediated Nanoelectrokinetic Direct Detection of Target Gene for Liquid Biopsy.

Lee H, Choi J, Jeong E, Baek S, Kim HC, Chae JH, Koh Y, Seo SW, Kim JS, Kim SJ.

Nano Lett. 2018 Dec 12;18(12):7642-7650. doi: 10.1021/acs.nanolett.8b03224. Epub 2018 Nov 27.

PMID:
30421614
36.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Erratum in: Nat Commun. 2019 Feb 15;10(1):883. Nat Commun. 2019 May 2;10(1):2079.

37.

A 3-Month-Old Boy With Progressive Weakness.

Kim SY, Ko JM, Choi SA, Cho A, Lee JS, Lim BC, Kim KJ, Chae JH.

Brain Pathol. 2018 Sep;28(5):773-774. doi: 10.1111/bpa.12651. No abstract available.

PMID:
30375113
38.

Late Mobile-Bearing Dislocation in Unicompartmental Knee Arthroplasty.

Song MH, Kim KT, Hwang YS, Kim JW, Eom TW, Chae JH.

Orthopedics. 2019 Jan 1;42(1):e124-e127. doi: 10.3928/01477447-20181010-09. Epub 2018 Oct 16.

PMID:
30321443
39.

Paroxysmal Dyskinesia in Children: from Genes to the Clinic.

Kim SY, Lee JS, Kim WJ, Kim H, Choi SA, Lim BC, Kim KJ, Chae JH.

J Clin Neurol. 2018 Oct;14(4):492-497. doi: 10.3988/jcn.2018.14.4.492. Epub 2018 Jul 12.

40.

BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.

Kim SJ, Nam SH, Kanwal S, Nam DE, Yoo DH, Chae JH, Suh YL, Chung KW, Choi BO.

Genes Genomics. 2018 Dec;40(12):1269-1277. doi: 10.1007/s13258-018-0721-1. Epub 2018 Aug 25.

PMID:
30145633
41.

Neuropathy, Ataxia, Retinitis Pigmentosa-like Phenotype Associated with a Mitochondrial G8363A Mutation in a Family.

Kim S, Han J, Kim HA, Lim BC, Seo JE, Choi M, Kim KJ, Lee IG, Chae JH.

Ann Clin Lab Sci. 2018 Jul;48(4):546-548. No abstract available.

PMID:
30143501
42.

Development of a common platform for the noninvasive prenatal diagnosis of X-linked diseases.

Jang SS, Lim BC, Yoo SK, Shin JY, Seo JS, Hwang D, Yoo KY, Chae JH, Kim JI.

Prenat Diagn. 2018 Oct;38(11):835-840. doi: 10.1002/pd.5337. Epub 2018 Aug 29.

PMID:
30048567
43.

Association of the loudness dependence of auditory evoked potentials with clinical changes to repetitive transcranial magnetic stimulation in patients with depression.

Lee S, Jang KI, Chae JH.

J Affect Disord. 2018 Oct 1;238:451-457. doi: 10.1016/j.jad.2018.05.023. Epub 2018 May 19.

PMID:
29920440
44.

Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis.

Jang SS, Lim BC, Yoo SK, Shin JY, Kim KJ, Seo JS, Kim JI, Chae JH.

Sci Rep. 2018 Jun 6;8(1):8678. doi: 10.1038/s41598-018-26941-0.

45.

Relationship between serum lipid concentrations and posttraumatic stress symptoms in the bereaved after the Sewol ferry disaster: A prospective cohort study.

Tae H, Huh HJ, Hwang J, Chae JH.

Psychiatry Res. 2018 Aug;266:132-137. doi: 10.1016/j.psychres.2018.04.058. Epub 2018 May 16.

PMID:
29864612
46.

Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation of SFTPC Successfully Treated with Lung Transplantation.

Park JS, Choi YJ, Kim YT, Park S, Chae JH, Park JD, Cho YJ, Kim WS, Seong MW, Park SH, Kwon D, Chung DH, Suh DI.

J Korean Med Sci. 2018 May 2;33(22):e159. doi: 10.3346/jkms.2018.33.e159. eCollection 2018 May 28.

47.

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.

Lee JS, Hwang H, Kim SY, Kim KJ, Choi JS, Woo MJ, Choi YM, Jun JK, Lim BC, Chae JH.

Ann Lab Med. 2018 Sep;38(5):473-480. doi: 10.3343/alm.2018.38.5.473.

48.

Spike persistence and normalization in benign epilepsy with centrotemporal spikes - Implications for management.

Kim H, Kim SY, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ, Dlugos DJ.

Brain Dev. 2018 Sep;40(8):693-698. doi: 10.1016/j.braindev.2018.04.011. Epub 2018 May 10.

PMID:
29754875
49.

Electrophysiological mechanisms of vandetanib-induced cardiotoxicity: Comparison of action potentials in rabbit Purkinje fibers and pluripotent stem cell-derived cardiomyocytes.

Lee HA, Hyun SA, Byun B, Chae JH, Kim KS.

PLoS One. 2018 Apr 9;13(4):e0195577. doi: 10.1371/journal.pone.0195577. eCollection 2018.

50.

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