A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy
Hong, Young Bin, Joo, Jaesoon, Hyun, Young Se, Kwak, Geon, Choi, Yu-Ri, Yeo, Ha Kyung, Jwa, Dong Hwan, Kim, Eun Ja, Mo, Won Min, Nam, Soo Hyun, Kim, Sung Min, Yoo, Jeong Hyun, Koo, Heasoo, Park, Hwan Tae, Chung, Ki Wha, Choi, Byung-Ok
Published in PLoS genetics (01.02.2016)
Published in PLoS genetics (01.02.2016)
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SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3
Nakhro, Khriezhanuo, Park, Jin-Mo, Hong, Young Bin, Park, Ji Hoon, Nam, Soo Hyun, Yoon, Bo Ram, Yoo, Jeong Hyun, Koo, Heasoo, Jung, Sung-Chul, Kim, Hyung-Lae, Kim, Ji Yon, Choi, Kyoung-Gyu, Choi, Byung-Ok, Chung, Ki Wha
Published in Neurology (09.07.2013)
Published in Neurology (09.07.2013)
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A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14
Choi, Byung-Ok, Hee Kang, Sung, Hyun, Young Se, Kanwal, Sumaria, Park, Sun Wha, Koo, Heasoo, Kim, Sang-Beom, Choi, Young-Chul, Yoo, Jeong Hyun, Kim, Jong-Won, Park, Kee Duk, Choi, Kyoung-Gyu, Ja Kim, Song, Züchner, Stephan, Chung, Ki Wha
Published in Human mutation (01.06.2011)
Published in Human mutation (01.06.2011)
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A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease
Hong, Young Bin, Lee, Ja Hyun, Park, Jin-Mo, Choi, Yu-Ri, Hyun, Young Se, Yoon, Bo Ram, Yoo, Jeong Hyun, Koo, Heasoo, Jung, Sung-Chul, Chung, Ki Wha, Choi, Byung-Ok
Published in BMC genetics (05.12.2013)
Published in BMC genetics (05.12.2013)
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Electron Microscopy Pathology of ADSSL1 Myopathy
Park, Hyung Jun, Lee, Jee Eun, Choi, Gyeong Seon, Koo, Heasoo, Han, Soo Jeong, Yoo, Jeong Hyun, Choi, Young Chul, Park, Kee Duk
Published in Journal of clinical neurology (Seoul, Korea) (01.01.2017)
Published in Journal of clinical neurology (Seoul, Korea) (01.01.2017)
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Bimodal upregulation of glial cell line‐derived neurotrophic factor (GDNF) in the neonatal rat brain following ischemic/hypoxic injury
Ikeda, Tomoaki, Koo, Heasoo, Xia, Yi X., Ikenoue, Tsuyomu, Choi, Ben H.
Published in International journal of developmental neuroscience (01.11.2002)
Published in International journal of developmental neuroscience (01.11.2002)
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Iron removal with phlebotomy and recombinant human erythropoietin in secondary hemochromatosis after allogeneic bone marrow transplantation
CHO, SU JIN, LEE, SOO JEONG, YOO, EUN SUN, RYU, KYUNG‐HA, SEOH, JU YOUNG, HONG, KI SOOK, KOO, HEASOO
Published in Pediatrics international (01.04.2006)
Published in Pediatrics international (01.04.2006)
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DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease
Hong, Young Bin, Kang, Junghee, Kim, Ji Hyun, Lee, Jinho, Kwak, Geon, Hyun, Young Se, Nam, Soo Hyun, Hong, Hyun Dae, Choi, Yu-Ri, Jung, Sung-Chul, Koo, Heasoo, Lee, Ji Eun, Choi, Byung-Ok, Chung, Ki Wha
Published in Human mutation (01.05.2016)
Published in Human mutation (01.05.2016)
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Middle mediastinal lesions: imaging findings and pathologic correlation
Kim, Yookyung, Lee, Kyung Soo, Yoo, Jeong Hyun, Rhee, Chungsik, Koo, Heasoo, Han, Joungho, Ahn, Myeong Im
Published in European journal of radiology (01.07.2000)
Published in European journal of radiology (01.07.2000)
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Sleep Related Problems as a Nonmotor Symptom of Dentatorubropallidoluysian Atrophy
Kim, Hyeyun, Yun, Ji Young, Choi, Kyoung-Gyu, Koo, Heasoo, Han, Hyun Jeong
Published in Journal of Korean medical science (23.04.2018)
Published in Journal of Korean medical science (23.04.2018)
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A novel Lys141Thr mutation in small heat shock protein 22 ( HSPB8 ) gene in Charcot–Marie–Tooth disease type 2L
Nakhro, Khriezhanuo, Park, Jin-Mo, Kim, Ye Jin, Yoon, Bo Ram, Yoo, Jeong Hyun, Koo, Heasoo, Choi, Byung-Ok, Chung, Ki Wha
Published in Neuromuscular disorders : NMD (01.08.2013)
Published in Neuromuscular disorders : NMD (01.08.2013)
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Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene
Lee, Sang-Soo, Lee, Hye Jin, Park, Jin-Mo, Hong, Young Bin, Park, Kee-Duk, Yoo, Jeong Hyun, Koo, Heasoo, Jung, Sung-Chul, Park, Hyung Soon, Lee, Ji Hyun, Lee, Min Goo, Hyun, Young Se, Nakhro, Khriezhanou, Chung, Ki Wha, Choi, Byung-Ok
Published in JAMA neurology (01.05.2013)
Published in JAMA neurology (01.05.2013)
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Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
Kim, Hyeon Jin, Hong, Young Bin, Park, Jin-Mo, Choi, Yu-Ri, Kim, Ye Jin, Yoon, Bo Ram, Koo, Heasoo, Yoo, Jeong Hyun, Kim, Sang Beom, Park, Minhwa, Chung, Ki Wha, Choi, Byung-Ok
Published in Orphanet journal of rare diseases (12.07.2013)
Published in Orphanet journal of rare diseases (12.07.2013)
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A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy: e1005829
Hong, Young Bin, Joo, Jaesoon, Hyun, Young Se, Kwak, Geon, Choi, Yu-Ri, Yeo, Ha Kyung, Jwa, Dong Hwan, Kim, Eun Ja, Mo, Won Min, Nam, Soo Hyun, Kim, Sung Min, Yoo, Jeong Hyun, Koo, Heasoo, Park, Hwan Tae, Chung, Ki Wha, Choi, Byung-Ok
Published in PLoS genetics (01.02.2016)
Published in PLoS genetics (01.02.2016)
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Zonal difference and prognostic significance of foxp3 regulatory T cell infiltration in breast cancer
Kim, Sewha, Lee, Anbok, Lim, Woosung, Park, Sanghui, Cho, Min Sun, Koo, Heasoo, Moon, Byung-In, Sung, Sun Hee
Published in Journal of breast cancer (01.03.2014)
Published in Journal of breast cancer (01.03.2014)
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Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1
LEE, JINHO, JUNG, SUNG-CHUL, HONG, YOUNG BIN, YOO, JEONG HYUN, KOO, HEASOO, LEE, JA HYUN, HONG, HYUN DAE, KIM, SANG-BEOM, CHUNG, KI WHA, CHOI, BYUNG-OK
Published in Molecular medicine reports (01.07.2016)
Published in Molecular medicine reports (01.07.2016)
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Charcot‐Marie‐Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families
Hyun, Young Se, Lee, Jinho, Kim, Hye Jin, Hong, Young Bin, Koo, Heasoo, Smith, Alec S.T., Kim, Deok‐Ho, Choi, Byung‐Ok, Chung, Ki Wha
Published in Annals of human genetics (01.11.2015)
Published in Annals of human genetics (01.11.2015)
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Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V
Park, Hyung Jun, Chang, Yoonkyung, Lee, Jee Eun, Koo, Heasoo, Oh, Jeeyoung, Choi, Young Chul, Park, Kee Duk
Published in Journal of clinical neurology (Seoul, Korea) (01.07.2016)
Published in Journal of clinical neurology (Seoul, Korea) (01.07.2016)
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