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Hea-soo Koo, MD - Publications

Affiliations: 
Ewha Womans University, Korea, Seoul, South Korea 
Area:
Neuropathology
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25 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2016 Park HJ, Chang Y, Lee JE, Koo H, Oh J, Choi YC, Park KD. Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V. Journal of Clinical Neurology (Seoul, Korea). PMID 27273923 DOI: 10.3988/jcn.2016.12.3.373  0.34
2016 Lee J, Jung SC, Hong YB, Yoo JH, Koo H, Lee JH, Hong HD, Kim SB, Chung KW, Choi BO. Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1. Molecular Medicine Reports. PMID 27150940 DOI: 10.3892/mmr.2016.5209  0.371
2016 Hong YB, Joo J, Hyun YS, Kwak G, Choi YR, Yeo HK, Jwa DH, Kim EJ, Mo WM, Nam SH, Kim SM, Yoo JH, Koo H, Park HT, Chung KW, et al. A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy. Plos Genetics. 12: e1005829. PMID 26828946 DOI: 10.1371/journal.pgen.1005829  0.36
2016 Hong YB, Kang J, Kim JH, Lee J, Kwak G, Hyun YS, Nam SH, Hong HD, Choi YR, Jung SC, Koo H, Lee JE, Choi BO, Chung KW. DGAT2 Mutation in a Family with Autosomal Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease. Human Mutation. PMID 26786738 DOI: 10.1002/humu.22959  0.359
2015 Choi YR, Hong YB, Jung SC, Lee JH, Kim YJ, Park HJ, Lee J, Koo H, Lee JS, Jwa DH, Jung N, Woo SY, Kim SB, Chung KW, Choi BO. A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy. Bmc Neurology. 15: 179. PMID 26437932 DOI: 10.1186/s12883-015-0430-1  0.383
2015 Hyun YS, Lee J, Kim HJ, Hong YB, Koo H, Smith AS, Kim DH, Choi BO, Chung KW. Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families. Annals of Human Genetics. PMID 26400421 DOI: 10.1111/ahg.12134  0.392
2015 Choi YJ, Hyun YS, Nam SH, Koo H, Hong YB, Chung KW, Choi BO. Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family. Journal of Clinical Neurology (Seoul, Korea). 11: 92-6. PMID 25628743 DOI: 10.3988/jcn.2015.11.1.92  0.384
2015 Hong YB, Lee JH, Park HJ, Choi YR, Hyun YS, Park JH, Koo H, Chung KW, Choi BO. A family with axonal sensorimotor polyneuropathy with TUBB3 mutation. Molecular Medicine Reports. 11: 2729-34. PMID 25482575 DOI: 10.3892/mmr.2014.3047  0.363
2014 Park MH, Woo HM, Hong YB, Park JH, Yoon BR, Park JM, Yoo JH, Koo H, Chae JH, Chung KW, Choi BO, Koo SK. Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy. Neurogenetics. 15: 171-82. PMID 24816431 DOI: 10.1007/s10048-014-0405-1  0.402
2013 Hong YB, Lee JH, Park JM, Choi YR, Hyun YS, Yoon BR, Yoo JH, Koo H, Jung SC, Chung KW, Choi BO. A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease. Bmc Medical Genetics. 14: 125. PMID 24314034 DOI: 10.1186/1471-2350-14-125  0.382
2013 Kim HJ, Hong YB, Park JM, Choi YR, Kim YJ, Yoon BR, Koo H, Yoo JH, Kim SB, Park M, Chung KW, Choi BO. Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. Orphanet Journal of Rare Diseases. 8: 104. PMID 23844677 DOI: 10.1186/1750-1172-8-104  0.404
2013 Nakhro K, Park JM, Kim YJ, Yoon BR, Yoo JH, Koo H, Choi BO, Chung KW. A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L. Neuromuscular Disorders : Nmd. 23: 656-63. PMID 23796487 DOI: 10.1016/j.nmd.2013.05.009  0.398
2013 Nakhro K, Park JM, Hong YB, Park JH, Nam SH, Yoon BR, Yoo JH, Koo H, Jung SC, Kim HL, Kim JY, Choi KG, Choi BO, Chung KW. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology. 81: 165-73. PMID 23749797 DOI: 10.1212/WNL.0b013e31829a3421  0.366
2013 Park JM, Kim YJ, Yoo JH, Hong YB, Park JH, Koo H, Chung KW, Choi BO. A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement. Neuromuscular Disorders : Nmd. 23: 580-6. PMID 23707328 DOI: 10.1016/j.nmd.2013.04.003  0.354
2013 Lee SS, Lee HJ, Park JM, Hong YB, Park KD, Yoo JH, Koo H, Jung SC, Park HS, Lee JH, Lee MG, Hyun YS, Nakhro K, Chung KW, Choi BO. Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene. Jama Neurology. 70: 607-15. PMID 23553329 DOI: 10.1001/jamaneurol.2013.1250  0.373
2013 Choi BO, Park MH, Chung KW, Woo HM, Koo H, Chung HK, Choi KG, Park KD, Lee HJ, Hyun YS, Koo SK. Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2. Neurogenetics. 14: 35-42. PMID 23142943 DOI: 10.1007/s10048-012-0346-5  0.397
2013 Kim HJ, Hong YB, Park J, Choi Y, Kim YJ, Yoon BR, Koo H, Yoo JH, Kim SB, Park M, Chung KW, Choi B. Erratum to: Mutations in the PLEKHG5 Orphanet Journal of Rare Diseases. 8: 1-2. DOI: 10.1186/1750-1172-8-165  0.331
2012 Nakhro K, Kim YJ, Lee JH, Koo H, Choi B, Chung KW. Two de novo mutations of MFN2 associated with early-onset Charcot-Marie-Tooth disease type 2A neuropathy Genes & Genomics. 34: 653-661. DOI: 10.1007/S13258-012-0087-8  0.389
2011 Chung KW, Hyun YS, Lee HJ, Jung HK, Koo H, Yoo JH, Kim SB, Park CI, Kim HN, Choi BO. Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations. Journal of the Peripheral Nervous System : Jpns. 16: 143-6. PMID 21692914 DOI: 10.1111/j.1529-8027.2011.00329.x  0.372
2011 Choi BO, Kim SB, Kanwal S, Hyun YS, Park SW, Koo H, Yoo JH, Hyun JW, Park KD, Choi KG, Chung KW. MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis. International Journal of Molecular Medicine. 28: 389-96. PMID 21503568 DOI: 10.3892/ijmm.2011.678  0.379
2011 Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Züchner S, Chung KW. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. Human Mutation. 32: 669-77. PMID 21480433 DOI: 10.1002/Humu.21488  0.356
2011 Kanwal S, Choi B, Kim S, Koo H, Kim JY, Hyun YS, Lee HJ, Chung KW. Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12 Animal Cells and Systems. 15: 301-309. DOI: 10.1080/19768354.2011.611172  0.309
2010 Kim HS, Chung KW, Kang SH, Choi SK, Cho SY, Koo H, Kim SB, Choi BO. Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy. Neurogenetics. 11: 425-33. PMID 20443038 DOI: 10.1007/s10048-010-0246-5  0.343
2010 Kim JY, Jeong EH, Park KD, Koo H. Myofibrillar Myopathy - A Case Report - Korean Journal of Pathology. 44: 426. DOI: 10.4132/Koreanjpathol.2010.44.4.426  0.322
2005 Chung KW, Sunwoo IN, Kim SM, Park KD, Kim WK, Kim TS, Koo H, Cho M, Lee J, Choi BO. Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family Neurogenetics. 6: 159-163. PMID 15947997 DOI: 10.1007/S10048-005-0217-4  0.362
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