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- The Mini-Mental State Examination (MMSE) as a Cognitive Screening Tool in Duchenne Muscular Dystrophy
- Flávia Nardes, Alexandra Prufer de Queiroz Campos Araújo, Márcia Gonçalves Ribeiro, Maíta Bittar, Hanid Fontes Gomes
- Ann Child Neurol. 2020;28(2):57-65. Published online April 3, 2020
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- A Novel c.6766_6767insAA Mutation in the Neurofibromin Gene in a Patient with Neurofibromatosis Type 1-Associated Glioblastoma.
- Eun Hye Yang, Young Mi Kim, Kyung Joon Kim, Seung Heon Cha, Min Jung Kwak
- J Korean Child Neurol Soc. 2018;26(3):175-179. Published online September 30, 2018
- A Case of Menkes Disease First Manifested as Severe Vesicoureteral Reflux Caused by a Novel Mutation in ATP7A Gene.
- Sun A Kang, Seung Woo Jeong, Eun Hye Lee
- J Korean Child Neurol Soc. 2017;25(4):261-265. Published online December 30, 2017
- Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation.
- Nalee Jee, Ara Ko, Se Hee Kim, Joon Soo Lee, Heung Dong Kim, Seung Tae Lee, Jong Rak Choi, Hoon Chul Kang
- J Korean Child Neurol Soc. 2017;25(3):169-173. Published online September 30, 2017
- SCN1A Variants in Patients with Dravet Syndrome.
- Min Jung Cho, Soon Sung Kwon, Seung Tae Lee, Heung Dong Kim, Hee Jung Chung, Joon Soo Lee, Young Mock Lee, Se Hee Kim, Hoon Chul Kang
- J Korean Child Neurol Soc. 2017;25(1):9-12. Published online March 30, 2017
- A Case Report of Glucose Transporter 1 Deficiency Syndrome with a Novel Splice Site Mutation (SLC2A1: c.680-2delA).
- Jong Soo Shin, Moon Jeong Lee, Sung Hwan Kim
- J Korean Child Neurol Soc. 2014;22(3):182-185. Published online September 30, 2014
- Whole Exome Sequencing of a Patient with Duchenne Muscular Dystrophy.
- Bong Seok Choi, Su Kyeong Hwang
- J Korean Child Neurol Soc. 2014;22(1):25-28. Published online March 30, 2014
- An Arg528His Mutation of the CACNL1A3 Gene in a Korean Family with Hypokalemic Periodic Paralysis.
- Kyung Ree Kim, Eun Sook Suh, Young Mock Lee
- J Korean Child Neurol Soc. 2012;20(1):28-32. Published online March 30, 2012
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- A Korean Case of Infantile Krabbe Disease with a Novel GALC Gene Mutation.
- Soo Han Choi, Jeehun Lee, Sanggoo Lee, Chang Seok Ki, Munhyang Lee
- J Korean Child Neurol Soc. 2009;17(2):209-214. Published online November 30, 2009
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- A Case Report of Genetically Confirmed Glycogen Storage Disease type Ia.
- Ka Young Yu, Sung Hoon Noh, Pyung Han Hwang, Sun Jun Kim
- J Korean Child Neurol Soc. 2009;17(1):78-83. Published online May 30, 2009
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- Association Analysis of Voltage-gated Chloride Channel Gene CLCN2 Polymorphism with Idiopathic Generalized Epilepsy.
- Ji Eun Choi, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang
- J Korean Child Neurol Soc. 2008;16(1):19-27. Published online May 30, 2008
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- A Case of Menkes disease with Infantile Spasm.
- So Hyun Ahn, Sin Young Park, Sung Gil Kang, Ji Eun Lee, Young Se Kwon, Byung Kwan Son, Han Wook Yoo
- J Korean Child Neurol Soc. 2007;15(2):199-204. Published online November 30, 2007
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- 3-year Follow-up of a Menkes Disease Patient.
- Ju Hee You, Hyun Paek, Kwon Jung, Gyu Keun Sun, Han Wook Yoo, Kyoung Sim Kim, Yong Wook Kim, Eun Young Kim
- J Korean Child Neurol Soc. 2007;15(1):94-101. Published online May 30, 2007
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- Long-term Clinical Follow-up of Patients with A3243G Mitochondrial tRNA Mutation : Clinical Phenotype and Natural Course.
- Mi Sun Ahn, Woo Chul Jeoung, Jin Soon Hwang, Sung Hwan Kim
- J Korean Child Neurol Soc. 2006;14(2):215-223. Published online November 30, 2006
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- Molecular Genetic Analysis of Dystrophin Gene in Duchenne/Becker Muscular Dystrophy.
- Su Yeon Park, Kyung Nam Koh, Byung Chan Lim, Ho Seok Kang, Kyoung Yeon Lee, Hee Hwang, Jong Hee Chae, Ji Eun Choi, Ki Joong Kim, Yong Seung Hwang
- J Korean Child Neurol Soc. 2004;12(1):50-58. Published online May 30, 2004
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