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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
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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
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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
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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
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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
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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
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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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