Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.
Autorzy:
Kim HJ; Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Korea.; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. Kim SB; Department of Neurology, Kyung Hee University Hospital at Gangdong, Kyung Hee University School of Medicine, Seoul, Republic of Korea. Kim HS; Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. Kwon HM; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. Park JH; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. Lee AJ; Department of Biological Sciences, Kongju National University, Gongju, Korea. Lim SO; Department of Biological Sciences, Kongju National University, Gongju, Korea. Nam SH; Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul, Korea. HongYB; Department of Biochemistry, College of Medicine, Dong-A University, Busan, Korea. Chung KW; Department of Biological Sciences, Kongju National University, Gongju, Korea. Choi BO; Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Korea.; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.; Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul, Korea.
Gait parameters as tools for analyzing phenotypic alterations of a mouse model of Charcot-Marie-Tooth disease.
Autorzy:
Hwang SH; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Chang EH; Samsung Biomedical Research Institute, Samsung Advanced Institute of Technology, Samsung Electronics Co., Ltd., Seoul, Republic of Korea. Kwak G; Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Republic of Korea. Jeon H; Department of Biochemistry, College of Medicine, Dong-A University, Busan, Republic of Korea.; Department of Translational Biomedical Sciences, Graduate School of Dong-A University, Busan, Korea. Choi BO; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.; Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Republic of Korea. HongYB; Department of Biochemistry, College of Medicine, Dong-A University, Busan, Republic of Korea.; Department of Translational Biomedical Sciences, Graduate School of Dong-A University, Busan, Korea.
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Animal cells and systems [Anim Cells Syst (Seoul)] 2021 Feb 11; Vol. 25 (1), pp. 11-18. Date of Electronic Publication: 2021 Feb 11.
Short hairpin RNA treatment improves gait in a mouse model of Charcot‑Marie‑Tooth disease type 1A.
Autorzy:
Doo HM; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Science and Technology (SAIHST), Sungkyunkwan University, Seoul 06351, Republic of Korea. HongYB; Department of Biochemistry, College of Medicine, Dong‑A University, Busan, South Gyeongsang 49201, Republic of Korea. Han J; Department of Biological Sciences, Laboratory of Stem Cell Research and Biotechnology, Hyupsung University, Hwasung‑si, Gyeonggi 18330, Republic of Korea. Moon HW; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea. Hwang H; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea. Kwak G; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Science and Technology (SAIHST), Sungkyunkwan University, Seoul 06351, Republic of Korea. Nam SH; Stem Cell and Regenerative Medicine Institute, Samsung Medical Center, Seoul 06351, Republic of Korea. Kim SB; Department of Neurology, Kyung Hee University Hospital at Gangdong, Kyung Hee University School of Medicine, Seoul 05278, Republic of Korea. Chung KW; Department of Biological Sciences, Kongju National University, Gongju, Chungcheong 32588, Republic of Korea. Kim JH; Department of Biological Sciences, Laboratory of Stem Cell Research and Biotechnology, Hyupsung University, Hwasung‑si, Gyeonggi 18330, Republic of Korea. Choi BO; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Science and Technology (SAIHST), Sungkyunkwan University, Seoul 06351, Republic of Korea.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2020 Dec; Vol. 22 (6), pp. 4947-4955. Date of Electronic Publication: 2020 Oct 11.
PINK1 alleviates thermal hypersensitivity in a paclitaxel-induced Drosophila model of peripheral neuropathy.
Autorzy:
Kim YY; Peripheral Neuropathy Research Center, Dong-A University, Busan, Republic of Korea.; Department of Biochemistry, College of Medicine, Dong-A University, Busan, Republic of Korea. Yoon JH; Peripheral Neuropathy Research Center, Dong-A University, Busan, Republic of Korea.; Department of Biochemistry, College of Medicine, Dong-A University, Busan, Republic of Korea. Um JH; Peripheral Neuropathy Research Center, Dong-A University, Busan, Republic of Korea.; Department of Biochemistry, College of Medicine, Dong-A University, Busan, Republic of Korea. Jeong DJ; Peripheral Neuropathy Research Center, Dong-A University, Busan, Republic of Korea.; Department of Biochemistry, College of Medicine, Dong-A University, Busan, Republic of Korea. Shin DJ; Peripheral Neuropathy Research Center, Dong-A University, Busan, Republic of Korea.; Department of Biochemistry, College of Medicine, Dong-A University, Busan, Republic of Korea. HongYB; Peripheral Neuropathy Research Center, Dong-A University, Busan, Republic of Korea.; Department of Biochemistry, College of Medicine, Dong-A University, Busan, Republic of Korea. Kim JK; Peripheral Neuropathy Research Center, Dong-A University, Busan, Republic of Korea.; Department of Neurology, College of Medicine, Dong-A University, Busan, Republic of Korea. Kim DH; Peripheral Neuropathy Research Center, Dong-A University, Busan, Republic of Korea.; Department of Medicinal Biotechnology, College of Health Sciences, Dong-A University, Busan, Republic of Korea. Kim C; Hormone Research Center, School of Biological Sciences and Technology, Chonnam National University, Gwangju, South Korea. Chung CG; Department of Brain & Cognitive Sciences, Daegu Gyeongbuk Institute of Science and Technology, Daegu, Republic of Korea. Lee SB; Department of Pharmacology, College of Medicine, Dong-A University, Busan, Republic of Korea. Koh H; Peripheral Neuropathy Research Center, Dong-A University, Busan, Republic of Korea.; Department of Pharmacology, College of Medicine, Dong-A University, Busan, Republic of Korea. Yun J; Peripheral Neuropathy Research Center, Dong-A University, Busan, Republic of Korea.; Department of Biochemistry, College of Medicine, Dong-A University, Busan, Republic of Korea.
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Źródło:
PloS one [PLoS One] 2020 Sep 17; Vol. 15 (9), pp. e0239126. Date of Electronic Publication: 2020 Sep 17 (Print Publication: 2020).
p75 and neural cell adhesion molecule 1 can identify pathologic Schwann cells in peripheral neuropathies.
Autorzy:
Kim YH; Peripheral Neuropathy Research Center (PNRC), Dong-A University College of Medicine, Busan, 49201, Republic of Korea. Kim YH; Biomedical Omics Group, Korea Basic Science Institute, Cheongju, Chungbuk, 28119, Republic of Korea. Shin YK; Peripheral Neuropathy Research Center (PNRC), Dong-A University College of Medicine, Busan, 49201, Republic of Korea. Jo YR; Peripheral Neuropathy Research Center (PNRC), Dong-A University College of Medicine, Busan, 49201, Republic of Korea. Park DK; Biomedical Omics Group, Korea Basic Science Institute, Cheongju, Chungbuk, 28119, Republic of Korea. Song MY; Biomedical Omics Group, Korea Basic Science Institute, Cheongju, Chungbuk, 28119, Republic of Korea. Yoon BA; Peripheral Neuropathy Research Center (PNRC), Dong-A University College of Medicine, Busan, 49201, Republic of Korea.; Department of Neurology, Dong-A University College of Medicine, Busan, 49201, Republic of Korea. Nam SH; Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, 06351, Republic of Korea. Kim JH; Laboratory of Stem Cell Differentiation, Department of Biological Science, Hyupsung University, Hwasung-si, 18330, Republic of Korea. Choi BO; Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, 06351, Republic of Korea.; Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea. Shin HY; Department of Neurology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03772, Republic of Korea. Kim SW; Department of Neurology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03772, Republic of Korea. Kim SH; Department of Pathology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03772, Republic of Korea. HongYB; Department of Biochemistry, Dong-A University College of Medicine, Busan, 49201, Republic of Korea. Kim JK; Peripheral Neuropathy Research Center (PNRC), Dong-A University College of Medicine, Busan, 49201, Republic of Korea.; Department of Neurology, Dong-A University College of Medicine, Busan, 49201, Republic of Korea. Park HT; Peripheral Neuropathy Research Center (PNRC), Dong-A University College of Medicine, Busan, 49201, Republic of Korea.; Department of Molecular Neuroscience, Dong-A University College of Medicine, Busan, 49201, Republic of Korea.
Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family.
Autorzy:
Nam DE; Department of Biological Sciences, Kongju National University, Gongju, Korea. Nam SH; Department of Biological Sciences, Kongju National University, Gongju, Korea.; Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul, Korea. Lee AJ; Department of Biological Sciences, Kongju National University, Gongju, Korea. HongYB; Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul, Korea. Choi BO; Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul, Korea.; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. Chung KW; Department of Biological Sciences, Kongju National University, Gongju, Korea.
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.
Autorzy:
HongYB; Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul, Korea. Park JM; Department of Neurology, College of Medicine, Dongguk University, Gyeongju, Korea. Yu JS; Department of Biological Sciences, Kongju National University, Gongju, Korea. Yoo DH; Department of Biological Sciences, Kongju National University, Gongju, Korea. Nam DE; Department of Biological Sciences, Kongju National University, Gongju, Korea. Park HJ; Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea. Lee JS; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. Hwang SH; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. Chung KW; Department of Biological Sciences, Kongju National University, Gongju, Korea. Choi BO; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.; Neuroscience Center, Samsung Medical Center, Seoul, Korea.
A longitudinal clinicopathological study of two unrelated patients with Charcot-Marie-Tooth disease type 1E.
Autorzy:
Kim JY; Department of Neurology, Seonam University College of Medicine Myongji Hospital, Goyang, South Korea. Kim SH; Department of Neurology, Kyungpook National University School of Medicine, Daegu, South Korea. Park JY; Department of Pathology, Kyungpook National University School of Medicine, Daegu, South Korea. Koo H; Department of Pathology, Ewha Womans University School of Medicine, Seoul, South Korea. Park KD; Department of Neurology, Ewha Womans University School of Medicine, Seoul, South Korea. HongYB; Stem Cell and Regenerative Medicine Center; Neuroscience Center, Samsung Medical Center, Seoul, South Korea. Chung KW; Department of Biological Sciences, Kongju National University, Gongju, South Korea. Chot BO; Neuroscience Center, Samsung Medical Center; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
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Źródło:
Neurology India [Neurol India] 2017 Jul-Aug; Vol. 65 (4), pp. 893-895.
Tonsil-Derived Mesenchymal Stem Cells Differentiate into a Schwann Cell Phenotype and Promote Peripheral Nerve Regeneration.
Autorzy:
Jung N; Department of Biochemistry, School of Medicine, Ewha Womans University, Seoul 07985, Korea. . Park S; Department of Biochemistry, School of Medicine, Ewha Womans University, Seoul 07985, Korea. . Choi Y; Department of Biochemistry, School of Medicine, Ewha Womans University, Seoul 07985, Korea. . Park JW; Department of Biochemistry, School of Medicine, Ewha Womans University, Seoul 07985, Korea. . HongYB; Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul 06351, Korea. . Park HH; Department of Neuroscience and Behavioral Biology, Emory University, Atlanta, GA 30322, USA. . Yu Y; Department of Molecular Medicine, School of Medicine, Ewha Womans University, Seoul 07985, Korea. . Kwak G; Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul 06351, Korea. . Kim HS; Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine, Ewha Womans University, Seoul 07985, Korea. . Ryu KH; Department of Pediatrics, School of Medicine, Ewha Womans University, Seoul 07985, Korea. . Kim JK; Department of Orthopedic Surgery, School of Medicine, Ewha Womans University, Seoul 07985, Korea. . Jo I; Department of Molecular Medicine, School of Medicine, Ewha Womans University, Seoul 07985, Korea. . Choi BO; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea. . Jung SC; Department of Biochemistry, School of Medicine, Ewha Womans University, Seoul 07985, Korea. .
Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.
Autorzy:
Hwang SH; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea. Kim EJ; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea. HongYB; Stem Cell & Regenerative Medicine Center, Samsung Medical Center, Seoul 06351, Republic of Korea. Joo J; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea. Kim SM; Department of Biological Sciences, Kongju National University, Gongju, South Chungcheong 32588, Republic of Korea. Nam SH; Department of Biological Sciences, Kongju National University, Gongju, South Chungcheong 32588, Republic of Korea. Hong HD; Department of Biological Sciences, Kongju National University, Gongju, South Chungcheong 32588, Republic of Korea. Kim SH; Department of Neurology, Hanyang University College of Medicine, Seoul 04763, Republic of Korea. Oh K; Department of Neurology, Hanyang University College of Medicine, Seoul 04763, Republic of Korea. Lim JG; Department of Neurology, Keimyung University College of Medicine, Daegu 42403, Republic of Korea. Cho JH; Department of Neurology, National Health Insurance Corporation Ilsan Hospital, Goyang, Gyeonggi 10444, Republic of Korea. Chung KW; Department of Biological Sciences, Kongju National University, Gongju, South Chungcheong 32588, Republic of Korea. Choi BO; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2016 Oct; Vol. 14 (4), pp. 3362-8. Date of Electronic Publication: 2016 Aug 22.
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
Autorzy:
Lee J; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135‑710, Republic of Korea. Jung SC; Department of Biochemistry, Ewha Womans University School of Medicine, Seoul 120‑750, Republic of Korea. HongYB; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135‑710, Republic of Korea. Yoo JH; Department of Radiology, Ewha Womans University School of Medicine, Seoul 120‑750, Republic of Korea. Koo H; Department of Pathology, Ewha Womans University School of Medicine, Seoul 120‑750, Republic of Korea. Lee JH; Department of Biological Science, Kongju National University, Konju, Chungnam 314‑701, Republic of Korea. Hong HD; Department of Biological Science, Kongju National University, Konju, Chungnam 314‑701, Republic of Korea. Kim SB; Department of Neurology, Kyung Hee University College of Medicine, Seoul 143‑601, Republic of Korea. Chung KW; Department of Biological Science, Kongju National University, Konju, Chungnam 314‑701, Republic of Korea. Choi BO; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135‑710, Republic of Korea.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2016 Jul; Vol. 14 (1), pp. 33-40. Date of Electronic Publication: 2016 May 04.
X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.
Autorzy:
Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute & Sydney Medical School University of Sydney, Sydney, Australia.; Molecular Medicine Laboratory, Concord Hospital, Sydney, Australia. Kim EJ; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.; Neuroscience Center, Samsung Medical Center, Seoul, Korea. Siddell A; Northcott Neuroscience Laboratory, ANZAC Research Institute & Sydney Medical School University of Sydney, Sydney, Australia. Kidambi A; Northcott Neuroscience Laboratory, ANZAC Research Institute & Sydney Medical School University of Sydney, Sydney, Australia. Kim SM; Department of Biological Sciences, Kongju National University, Gongju, Korea. HongYB; Neuroscience Center, Samsung Medical Center, Seoul, Korea.; Stem Cell & Regenerative Medicine Center, Kongju National University, Gongju, Korea. Hwang SH; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. Chung KW; Department of Biological Sciences, Kongju National University, Gongju, Korea. Choi BO; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.; Neuroscience Center, Samsung Medical Center, Seoul, Korea.; Stem Cell & Regenerative Medicine Center, Kongju National University, Gongju, Korea.
A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy.
Autorzy:
HongYB; Stem Cell and Regenerative Medicine Center, Samsung Medical Center, Seoul, Korea. Joo J; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Science and Technology, Sungkyunkwan University, Seoul, Korea. Hyun YS; Department of Biological Science, Kongju National University, Gongju, Korea. Kwak G; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Science and Technology, Sungkyunkwan University, Seoul, Korea. Choi YR; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. Yeo HK; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. Jwa DH; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. Kim EJ; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.; Neuroscience Center, Samsung Medical Center, Seoul, Korea. Mo WM; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. Nam SH; Department of Biological Science, Kongju National University, Gongju, Korea. Kim SM; Department of Biological Science, Kongju National University, Gongju, Korea. Yoo JH; Department of Radiology, Ewha Womans University, School of Medicine, Seoul, Korea. Koo H; Department of Pathology, Ewha Womans University, School of Medicine, Seoul, Korea. Park HT; Department of Physiology, College of Medicine, Dong-A University, Busan, Korea. Chung KW; Department of Biological Science, Kongju National University, Gongju, Korea. Choi BO; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.; Neuroscience Center, Samsung Medical Center, Seoul, Korea.
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Źródło:
PLoS genetics [PLoS Genet] 2016 Feb 01; Vol. 12 (2), pp. e1005829. Date of Electronic Publication: 2016 Feb 01 (Print Publication: 2016).
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