Detalhe da pesquisa
1.
SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.
Am J Med Genet A
; : e63606, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38563110
2.
Interaction of interictal epileptiform activity with sleep spindles is associated with cognitive deficits and adverse surgical outcome in pediatric focal epilepsy.
Epilepsia
; 65(1): 190-203, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37983643
3.
Risk of central nervous system demyelinating attack or optic neuritis recurrence after pediatric optic neuritis in Korea.
Neurol Sci
; 45(3): 1173-1183, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37853292
4.
Outcomes of the second withdrawal of anti-seizure medication in patients with pediatric-onset epilepsy.
Epilepsia
; 64(6): e93-e97, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36976527
5.
Clinico-radiological characteristics of anti-myelin oligodendrocyte glycoprotein antibody-associated autoimmune encephalitis in children.
Dev Med Child Neurol
; 64(8): 998-1007, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35106761
6.
Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.
Clin Genet
; 99(3): 418-424, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33349918
7.
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Clin Genet
; 97(4): 586-594, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32020600
8.
Development of the clinical assessment scale in autoimmune encephalitis.
Ann Neurol
; 85(3): 352-358, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30675918
9.
Serum α-synuclein and IL-1ß are increased and correlated with measures of disease severity in children with epilepsy: potential prognostic biomarkers?
BMC Neurol
; 20(1): 85, 2020 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32151248
10.
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.
Muscle Nerve
; 60(6): 668-672, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31498906
11.
Satellite lesions of DNET: implications for seizure and tumor control after resection.
J Neurooncol
; 143(3): 437-445, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31054098
12.
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Ann Neurol
; 82(3): 466-478, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28856709
13.
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.
Muscle Nerve
; 58(3): 381-388, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29406609
14.
Development of a common platform for the noninvasive prenatal diagnosis of X-linked diseases.
Prenat Diagn
; 38(11): 835-840, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30048567
15.
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
Muscle Nerve
; 55(5): 727-734, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27593222
16.
GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.
Am J Med Genet A
; 170(8): 2200-5, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27232954
17.
Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.
Am J Med Genet A
; 170(11): 3023-3027, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27411168
18.
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
J Med Genet
; 52(3): 208-16, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25635128
19.
Noninvasive prenatal diagnosis of duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus.
Clin Chem
; 61(6): 829-37, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847990
20.
Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.
Epileptic Disord
; 16(4): 449-55, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25498131