Search Results - "Choi, B. O."

Psychoacoustics and neurophysiological auditory processing in patients with Charcot‐Marie‐Tooth disease types 1A and 2A by Choi, J. E., Seol, H. Y., Seok, J. M., Hong, S. H., Choi, B.‐O., Moon, I. J.

“…Background and purpose Hidden hearing loss has been reported in patients with Charcot‐Marie‐Tooth (CMT) disease; however, the auditory‐processing deficits have…”
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A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients by Choi, B.-O., Nakhro, K., Park, H.J., Hyun, Y.S., Lee, J.H., Kanwal, S., Jung, S.-C., Chung, K.W.

“…Charcot–Marie–Tooth disease 2A (CMT2A) is the most common axonal form of peripheral neuropathy caused by a defect in the mitofusin 2 (MFN2) gene, which encodes…”
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Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy by Hyun, Y.S., Park, H.J., Heo, S.-H., Yoon, B.R., Nam, S.H., Kim, S.-B., Park, C.I., Choi, B.-O., Chung, K.W.

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Early onset severe and late-onset mild Charcot–Marie–Tooth disease with mitofusin 2 (MFN2) mutations by Chung, K. W., Kim, S. B., Park, K. D., Choi, K. G., Lee, J. H., Eun, H. W., Suh, J. S., Hwang, J. H., Kim, W. K., Seo, B. C., Kim, S. H., Son, I. H., Kim, S. M., Sunwoo, I. N., Choi, B. O.

“…Mutations in the mitofusin 2 (MFN2) gene, which encodes a mitochondrial GTPase mitofusin protein, have recently been reported to cause both Charcot–Marie–Tooth…”
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Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP by Jo, H.-Y., Park, M.-H., Woo, H.-M., Han, M.H., Kim, B.-Y., Choi, B.-O., Chung, K.W., Koo, S.K.

“…Large insertions and deletions (indels), including copy number variations (CNVs), are commonly seen in many diseases. Standard approaches for indel detection…”
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Pathway analysis of genome‐wide association datasets of personality traits by Kim, H.‐N., Kim, B.‐H., Cho, J., Ryu, S., Shin, H., Sung, J., Shin, C., Cho, N. H., Sung, Y. A., Choi, B.‐O., Kim, H.‐L.

“…Although several genome‐wide association (GWA) studies of human personality have been recently published, genetic variants that are highly associated with…”
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Application of variant-calling algorithms for Mendelian disorders: lessons from whole-exome sequencing in Charcot-Marie-Tooth disease by Hong, Y.B., Jung, J., Jung, S.-C., Chung, K.W., Choi, B.-O.

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Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement by Chung, K W, Suh, B C, Cho, S Y, Choi, S K, Kang, S H, Yoo, J H, Hwang, J Y, Choi, B O

“…Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most common cause of the axonal form of Charcot-Marie-Tooth disease (CMT). A prospective…”
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Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2 by Choi, B.-O., Park, M.-H., Chung, K. W., Woo, H.-M., Koo, H., Chung, H.-K., Choi, K.-G., Park, K. D., Lee, H. J., Hyun, Y. S., Koo, S. K.

“…The objective of the study was to investigate the disease-causing mutation in an autosomal dominant Charcot-Marie-Tooth disease type 2 family and examine the…”
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X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans by Kim, Y, Choi, K-G, Park, KD, Lee, KS, Chung, KW, Choi, B-O

“…Kim Y, Choi K‐G, Park KD, Lee KS, Chung KW, Choi B‐O. X‐linked dominant Charcot‐Marie‐Tooth disease with connexin 32 (Cx32) mutations in Koreans. X‐linked…”
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Hyperhomocysteinemia as an independent risk factor for silent brain infarction by KIM, N. K, CHOI, B. O, JUNG, W. S, CHOI, Y. J, CHOI, K. G

“…To evaluate whether hyperhomocysteinemia is an independent risk factor for silent brain infarction (SBI), and to determine the relationship between…”
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Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation by Perez-Siles, G., Cutrupi, A., Ellis, M., Screnci, R., Mao, D., Uesugi, M., Yiu, Eppie M., Ryan, Monique M., Choi, B. O., Nicholson, G., Kennerson, M. L.

“…Charcot-Marie-Tooth (CMT) is a group of inherited diseases clinically and genetically heterogenous, characterised by length dependent degeneration of axons of…”
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Homozygous C677T mutation in the MTHFR gene as an independent risk factor for multiple small-artery occlusions by Choi, B.O, Kim, N.K, Kim, S.H, Kang, M.S, Lee, S, Ahn, J.Y, Kim, O.J, Kim, S, Oh, D

“…Introduction: Hyperhomocysteinemia is an independent risk factor for cerebrovascular disease and the homozygous C677T mutation in the methylenetetrahydrofolate…”
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Supine linac treatment versus tomotherapy in craniospinal irradiation: planning comparison and dosimetric evaluation by Hong, J. Y., Kim, G. W., Kim, C. U., Cheon, G. S., Son, S. H., Lee, J. Y., Lee, Y. H., Lee, J. H., Choi, B. O., Kim, Y. S., Lee, S. N., Jang, H. S., Kang, Y. N., Yoon, S. C.

“…Craniospinal irradiation (CSI) is the standard treatment of primary intracranial tumour with risk of leptomeningeal dissemination. However, supine setup…”
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Printed black internal conducting electrodes for flexible bistable cholesteric displays by Atkuri, H. M., Lee, D.-W., Choi, B.-O., Kim, C.-H., West, J. L.

“…We report flexible, bistable cholesteric displays utilizing polyester (PET) substrates with printed internal black electrodes. The black electrodes consist of…”
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Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family by CHUNG, K. W, SUNWOO, I. N, KIM, S. M, PARK, K. D, KIM, W.-K, KIM, T. S, KOO, H, CHO, M, LEE, J, CHOI, B. O

“…During mutational analysis of Charcot-Marie-Tooth (CMT) causative genes, we identified a CMT family with two missense mutations in different genes. A R359W…”
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Gait pattern comparison in moderate and severe CMT patients by Hwang, S.H, Kim, E.J, Hong, Y.B, Lee, J.H, Choi, B.-O

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NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1 by Shin, Ji Soo, Chung, Ki Wha, Cho, Sun Young, Yun, Jiyoung, Hwang, Su Jin, Kang, Sung Hee, Cho, En Min, Kim, Seung-Min, Choi, Byung-Ok

“…Charcot-Marie-Tooth disease (CMT) is classified into demyelinating neuropathy (CMT1) and axonal neuropathy (CMT2). Mutations in the neurofilament light chain…”
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Complication analysis of breast cancer patients after mastectomy with immediate autologous breast reconstruction and adjuvant radiotherapy by Lee, S J, Kwak, Y K, Park, E Y, Lee, S W, Sung, S Y, Choi, B O

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Different clinical and magnetic resonance imaging features between Charcot–Marie–Tooth disease type 1A and 2A by Chung, K.W, Suh, B.C, Shy, M.E, Cho, S.Y, Yoo, J.H, Park, S.W, Moon, H, Park, K.D, Choi, K.G, Kim, S, Kim, S.B, Shim, D.S, Kim, S.M, Sunwoo, I.N, Choi, B.O

“…Abstract Charcot–Marie–Tooth disease type 1A (CMT1A) is the more frequent cause of demyelinating CMT, and CMT2A is the most common cause of axonal CMT. We…”
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