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Items: 1 to 50 of 172

1.

Immunoglobulin Heavy Chain Gene Rearrangement Studies in the Diagnosis of a Paediatric Conjunctival Lesion.

Lim BCH, Sandercoe TM.

Case Rep Ophthalmol. 2019 Apr 4;10(1):116-119. doi: 10.1159/000499377. eCollection 2019 Jan-Apr.

2.

Serum α-synuclein and IL-1β are increased and correlated with measures of disease severity in children with epilepsy: potential prognostic biomarkers?

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

BMC Neurol. 2020 Mar 9;20(1):85. doi: 10.1186/s12883-020-01662-y.

3.

Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.

Lee JS, Yoo T, Lee M, Lee Y, Jeon E, Kim SY, Lim BC, Kim KJ, Choi M, Chae JH.

Clin Genet. 2020 Apr;97(4):586-594. doi: 10.1111/cge.13713. Epub 2020 Feb 10.

PMID:
32020600
4.

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population.

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.

Sci Rep. 2020 Jan 29;10(1):1413. doi: 10.1038/s41598-020-58101-8.

5.

Erratum to: 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. 2020 Jan;16(1):181. doi: 10.3988/jcn.2020.16.1.181.

6.

Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population.

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

J Clin Neurol. 2020 Jan;16(1):75-82. doi: 10.3988/jcn.2020.16.1.75.

7.

Mapping axon initial segment structure and function by multiplexed proximity biotinylation.

Hamdan H, Lim BC, Torii T, Joshi A, Konning M, Smith C, Palmer DJ, Ng P, Leterrier C, Oses-Prieto JA, Burlingame AL, Rasband MN.

Nat Commun. 2020 Jan 3;11(1):100. doi: 10.1038/s41467-019-13658-5.

8.

Predictive Factors of Major Lower Extremity Amputations in Diabetic Foot Infections: A Cross-sectional Study at District Hospital in Malaysia.

Kow RY, Low CL, Ruben JK, Zaharul-Azri MZ, Lim BC.

Malays Orthop J. 2019 Nov;13(3):45-52. doi: 10.5704/MOJ.1911.008.

9.

Change of centrotemporal spikes from onset to remission in self-limited epilepsy with centrotemporal spikes (SLECTS).

Han JY, Choi SA, Chung YG, Shim YK, Kim WJ, Kim SY, Kim H, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ.

Brain Dev. 2020 Mar;42(3):270-276. doi: 10.1016/j.braindev.2019.11.005. Epub 2019 Dec 5.

PMID:
31813543
10.

To pee or not to pee: severe discomfort in a young air traveller.

Lim GHC, Lim BCW, Flaherty GT.

J Travel Med. 2020 Mar 13;27(2). pii: taz096. doi: 10.1093/jtm/taz096. No abstract available.

PMID:
31808935
11.

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.

12.

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.

13.

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. Erratum in: J Clin Neurol. 2020 Jan;16(1):181.

14.

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.

15.

Validity and Reliability of Health Belief Model Questionnaire for Promoting Breast Self-examination and Screening Mammogram for Early Cancer Detection.

Che Mohamed N, Moey SF, Lim BC.

Asian Pac J Cancer Prev. 2019 Sep 1;20(9):2865-2873. doi: 10.31557/APJCP.2019.20.9.2865.

16.

Clinical and Molecular Characteristics of GNAS Inactivation Disorders Observed in 18 Korean Patients.

Han SR, Lee YA, Shin CH, Yang SW, Lim BC, Cho TJ, Ko JM.

Exp Clin Endocrinol Diabetes. 2019 Sep 23. doi: 10.1055/a-1001-3575. [Epub ahead of print]

PMID:
31546270
17.

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
18.

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
19.

Epilepsy Therapy Goes Viral.

Lim BC, Hunt RF.

Epilepsy Curr. 2019 Sep;19(5):328-329. doi: 10.1177/1535759719870506. Epub 2019 Aug 28.

20.

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
21.

Safety and completeness of using indocyanine green videoangiography combined with digital subtraction angiography for aneurysm surgery in a hybrid operating theater.

Park JH, Lee JY, Jeon HJ, Lim BC, Park SW, Cho BM.

Neurosurg Rev. 2019 Jul 17. doi: 10.1007/s10143-019-01141-0. [Epub ahead of print]

PMID:
31317284
22.

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.

23.

Factors Associated with Deep Surgical Site Infection Following Spinal Surgery: A Pilot Study.

Khan ES, Kow RY, Arifin KBBM, Komahen C, Low CL, Lim BC.

Cureus. 2019 Apr 3;11(4):e4377. doi: 10.7759/cureus.4377.

24.

Travel vaccination recommendations and infection risk in HIV-positive travellers.

Chang L, Lim BCW, Flaherty GT, Torresi J.

J Travel Med. 2019 Sep 2;26(6). pii: taz034. doi: 10.1093/jtm/taz034.

PMID:
31066446
25.

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
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.

Artificial intelligence in dermatology: are we there yet?

Lim BCW, Flaherty G.

Br J Dermatol. 2019 Jul;181(1):190-191. doi: 10.1111/bjd.17899. No abstract available.

PMID:
30912580
28.

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.

29.

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.

30.

Development of the clinical assessment scale in autoimmune encephalitis.

Lim JA, Lee ST, Moon J, Jun JS, Kim TJ, Shin YW, Abdullah S, Byun JI, Sunwoo JS, Kim KT, Yang TW, Lee WJ, Moon HJ, Kim DW, Lim BC, Cho YW, Yang TH, Kim HJ, Kim YS, Koo YS, Park B, Jung KH, Kim M, Park KI, Jung KY, Chu K, Lee SK.

Ann Neurol. 2019 Mar;85(3):352-358. doi: 10.1002/ana.25421. Epub 2019 Feb 10.

PMID:
30675918
31.

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.

32.

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
33.

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.

34.

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
35.

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
36.

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.

37.

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.

38.

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
39.

Two Distinct Secretory Pathways for Differential Kv2.1 Localization in Neurons.

Lim BC, Liu CH.

J Neurosci. 2018 May 2;38(18):4261-4263. doi: 10.1523/JNEUROSCI.0236-18.2018. No abstract available.

40.

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.

Lee JS, Choi JM, Lee M, Kim SY, Lee S, Lim BC, Cheon JE, Kim IO, Kim KJ, Choi M, Seong MW, Chae JH.

Brain Dev. 2018 May;40(5):383-390. doi: 10.1016/j.braindev.2018.01.009. Epub 2018 Feb 10.

PMID:
29439846
41.

Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation.

Kim H, Lee S, Choi M, Kim H, Hwang H, Choi J, Chae JH, Kim KJ, Lim BC.

Brain Dev. 2018 May;40(5):429-432. doi: 10.1016/j.braindev.2018.01.006. Epub 2018 Feb 8.

PMID:
29428275
42.

Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.

Kim SY, Kim WJ, Kim H, Choi SA, Lee JS, Cho A, Jang SS, Lim BC, Kim KJ, Kim JI, Hahn SH, Chae JH.

Muscle Nerve. 2018 Sep;58(3):381-388. doi: 10.1002/mus.26093.

PMID:
29406609
43.

Anti-proliferative activity of a purified polysaccharide isolated from the basidiomycete fungus Paxillus involutus.

Barad A, Mackedenski S, Li WM, Li XJ, Lim BCC, Rashid F, Tackaberry LE, Massicotte HB, Egger KN, Reimer K, Cheung PCK, Lee CH.

Carbohydr Polym. 2018 Feb 1;181:923-930. doi: 10.1016/j.carbpol.2017.11.058. Epub 2017 Nov 16.

PMID:
29254055
44.

Surgical outcome and predictive factors of epilepsy surgery in pediatric isolated focal cortical dysplasia.

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

Epilepsy Res. 2018 Jan;139:54-59. doi: 10.1016/j.eplepsyres.2017.11.012. Epub 2017 Nov 27.

PMID:
29197666
45.

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

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, Bilgüvar 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.

Ann Neurol. 2017 Sep;82(3):466-478. doi: 10.1002/ana.25032.

PMID:
28856709
46.

A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.

Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC.

Ann Lab Med. 2017 Nov;37(6):516-521. doi: 10.3343/alm.2017.37.6.516.

47.

Factors Associated with Favorable Outcome of Topiramate Migraine Prophylaxis in Pediatric Patients.

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

J Clin Neurol. 2017 Jul;13(3):281-286. doi: 10.3988/jcn.2017.13.3.281.

48.

Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.

Lee JS, Seo J, Cho A, Lim BC, Choi M, Kim JW, Kim OH, Cho TJ, Chae JH.

Brain Dev. 2017 Oct;39(9):799-803. doi: 10.1016/j.braindev.2017.04.020. Epub 2017 Jun 28.

PMID:
28668235
49.

Large-scale structural alteration of brain in epileptic children with SCN1A mutation.

Lee YJ, Yum MS, Kim MJ, Shim WH, Yoon HM, Yoo IH, Lee J, Lim BC, Kim KJ, Ko TS.

Neuroimage Clin. 2017 Jun 6;15:594-600. doi: 10.1016/j.nicl.2017.06.002. eCollection 2017.

50.

Mandarin parents' evaluation of developmental status in the detection of delays.

Toh TH, Lim BC, Bujang MAB, Haniff J, Wong SC, Abdullah MR.

Pediatr Int. 2017 Aug;59(8):861-868. doi: 10.1111/ped.13325. Epub 2017 Jul 14.

PMID:
28510345

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