| Dysregulation of parkin in the substantia nigra of db/db and high-fat diet mice R Khang, C Park, JH Shin Neuroscience 294, 182-192, 2015 | 76 | 2015 |
| Activation of the ATF2/CREB-PGC-1α pathway by metformin leads to dopaminergic neuroprotection H Kang, R Khang, S Ham, GR Jeong, H Kim, M Jo, BD Lee, YI Lee, A Jo, ... Oncotarget 8 (30), 48603, 2017 | 64 | 2017 |
| PARIS farnesylation prevents neurodegeneration in models of Parkinson’s disease A Jo, Y Lee, TI Kam, SU Kang, S Neifert, SS Karuppagounder, R Khang, ... Science translational medicine 13 (604), eaax8891, 2021 | 42 | 2021 |
| Diaminodiphenyl sulfone–induced parkin ameliorates age-dependent dopaminergic neuronal loss YI Lee, H Kang, YW Ha, KY Chang, SC Cho, SO Song, H Kim, A Jo, ... Neurobiology of aging 41, 1-10, 2016 | 22 | 2016 |
| The biguanide metformin alters phosphoproteomic profiling in mouse brain R Khang, CH Park, JH Shin Neuroscience Letters 579, 145-150, 2014 | 20 | 2014 |
| α-Synuclein A53T binds to transcriptional adapter 2-alpha and blocks histone H3 acetylation JY Lee, H Kim, A Jo, R Khang, CH Park, SJ Park, E Kwag, JH Shin International Journal of Molecular Sciences 22 (10), 5392, 2021 | 19 | 2021 |
| PARIS reprograms glucose metabolism by HIF-1α induction in dopaminergic neurodegeneration H Kang, A Jo, H Kim, R Khang, JY Lee, H Kim, CH Park, JY Choi, Y Lee, ... Biochemical and Biophysical Research Communications 495 (4), 2498-2504, 2018 | 17 | 2018 |
| Identification of transketolase as a target of PARIS in substantia nigra H Kim, H Kang, Y Lee, CH Park, A Jo, R Khang, JH Shin Biochemical and biophysical research communications 493 (2), 1050-1056, 2017 | 13 | 2017 |
| Farnesol prevents aging-related muscle weakness in mice through enhanced farnesylation of Parkin-interacting substrate JH Bae, A Jo, SC Cho, YI Lee, TI Kam, CL You, HJ Jeong, H Kim, ... Science translational medicine 15 (711), eabh3489, 2023 | 8 | 2023 |
| Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa N Chen, H Lee, AH Kim, PK Liu, EYC Kang, YJ Tseng, GH Seo, R Khang, ... BMC ophthalmology 22 (1), 441, 2022 | 6 | 2022 |
| Loss of zinc-finger protein 212 leads to Purkinje cell death and locomotive abnormalities with phospholipase D3 downregulation R Khang, A Jo, H Kang, H Kim, E Kwag, JY Lee, O Koo, J Park, HK Kim, ... Scientific reports 11 (1), 22745, 2021 | 4 | 2021 |
| Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families AA Abdulkareem, Q Zaman, H Khan, S Khan, G Rehman, N Tariq, ... Frontiers in Genetics 14, 1185065, 2023 | 2 | 2023 |
| Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling YH Chang, EYC Kang, L Liu, LA Jenny, R Khang, GH Seo, H Lee, ... Orphanet Journal of Rare Diseases 18 (1), 131, 2023 | 2 | 2023 |
| Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome V Salpietro, R Maroofian, MS Zaki, J Wangen, A Ciolfi, S Barresi, ... The American Journal of Human Genetics 111 (1), 200-210, 2024 | 1 | 2024 |
| LONG-TERM CLINICAL OUTCOMES AND GENOTYPE–PHENOTYPE CORRELATION IN FAMILIAL EXUDATIVE VITREORETINOPATHY IN A TERTIARY REFERRAL CENTER ASH Tsai, EYC Kang, NK Wang, H Lee, GH Seo, R Khang, WC Wu Retina 43 (11), 1945-1950, 2023 | 1 | 2023 |
| The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report AA Sadek, MA Aladawy, TMM Mansour, KM Sayed, R Khang, ... Egyptian Journal of Medical Human Genetics 25 (1), 1-9, 2024 | | 2024 |
| Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing ME Reyna-Fabián, L Fernández-Hernández, S Enríquez-Flores, ... Scientific Reports 14 (1), 14380, 2024 | | 2024 |
| TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families OF Chacon‐Camacho, T Ordaz‐Robles, MA Cid‐García, ... American Journal of Medical Genetics Part A, e63716, 2024 | | 2024 |
| Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing S Watson, KJ Ngo, HA Stevens, DY Wong, J Kim, Y Song, B Han, SI Hyun, ... Neurology: Genetics 10 (3), e200133, 2024 | | 2024 |
| Whole exome sequencing in Serbian patients with hereditary spastic paraplegia M Brankovic, V Ivanovic, I Basta, R Khang, E Lee, Z Stevic, B Ralic, ... neurogenetics, 1-13, 2024 | | 2024 |
