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1دورية أكاديمية
المؤلفون: Akihiro Hashiguchi, Hiroshi Takashima, Ichiro Nozaki, Kazuo Iwasa, Kenjiro Ono, Tomomi Higashide, Yoko Yamashita
المصدر: Internal Medicine. 2023, 62(20):3033
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2دورية أكاديمية
المؤلفون: Sabine Kovale, Ruta Terauda, Elina Millere, Gita Taurina, Daiga Murmane, Jekaterina Isakova, Viktorija Kenina, Linda Gailite
المصدر: Case Reports in Neurology, Vol 13, Iss 2, Pp 422-428 (2021)
مصطلحات موضوعية: gjb1, x-linked charcot-marie-tooth disease, charcot-marie-tooth disease, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Akihiro Hashiguchi, Hiroshi Takashima, Ken Ito, Kenjiro Kikuchi, Kentaro Kogawa, Norimichi Higurashi, 伊藤 研, 古河 賢太郎, 日暮 憲道, 橋口 昭大, 菊池 健二郎, 高嶋 博
المصدر: 脳と発達 / NO TO HATTATSU. 2022, 54(1):56
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4دورية أكاديمية
المؤلفون: Jingwen Niu, Yi Dai, Mingsheng Liu, Yi Li, Qingyun Ding, Yuzhou Guan, Liying Cui, Liri Jin
المصدر: Frontiers in Neurology, Vol 10 (2020)
مصطلحات موضوعية: X-linked Charcot-Marie-Tooth disease (CMTX1), GJB1, transient central nervous system symptoms, case series, peripheral neuropathy, central nervous system, Neurology. Diseases of the nervous system, RC346-429
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2019.01406/fullTest; https://doaj.org/toc/1664-2295Test; https://doaj.org/article/303eb970e4f94c29a1aae868f913218cTest
الإتاحة: https://doi.org/10.3389/fneur.2019.01406Test
https://doaj.org/article/303eb970e4f94c29a1aae868f913218cTest -
5دورية أكاديمية
المؤلفون: Bo Sun, Zhao-Hui Chen, Li Ling, Yi-Fan Li, Li-Zhi Liu, Fei Yang, Xu-Sheng Huang
المصدر: Chinese Medical Journal, Vol 129, Iss 9, Pp 1011-1016 (2016)
مصطلحات موضوعية: Connexin 32, Electrophysiology, Gap Junction Protein Beta 1, Genetic Mutation, X-linked Charcot–Marie–Tooth Disease, Medicine
وصف الملف: electronic resource
العلاقة: http://www.cmj.org/article.asp?issn=0366-6999;year=2016;volume=129;issue=9;spage=1011;epage=1016;aulast=SunTest; https://doaj.org/toc/0366-6999Test
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6دورية أكاديمية
المؤلفون: Akihiro Hashiguchi, Hiroshi Takashima, Koichi Hirata, Norito Kokubun, Reika Aoki, Tomoko Komagamine, 国分 則人, 平田 幸一, 橋口 昭大, 青木 怜佳, 駒ヶ嶺 朋子, 高嶋 博
المصدر: 臨床神経生理学 / Japanese Journal of Clinical Neurophysiology. 2020, 48(1):8
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7دورية أكاديمية
المؤلفون: Qingxian Wen, Longqiao Cao, Cun Yang, Yanchen Xie
المصدر: Frontiers in Neurology, Vol 9 (2018)
مصطلحات موضوعية: X-linked Charcot-Marie-Tooth disease, electrophysiological, white matter, transient, GJB1, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2018.00461/fullTest; https://doaj.org/toc/1664-2295Test
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8
المؤلفون: Kovale, Sabine, Terauda, Ruta, Millere, Elina, Taurina, Gita, Murmane, Daiga, Isakova, Jekaterina, Kenina, Viktorija, Gailite, Linda
المصدر: Case Reports in Neurology, Vol 13, Iss 2, Pp 422-428 (2021)
Case Reports in Neurologyمصطلحات موضوعية: Case Series – General Neurology, congenital, hereditary, and neonatal diseases and abnormalities, x-linked charcot-marie-tooth disease, gjb1, Neurology. Diseases of the nervous system, RC346-429, charcot-marie-tooth disease, nervous system diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::59d46685c3e85c62e681d58baf0c5a06Test
https://www.karger.com/Article/FullText/515170Test -
9رسالة جامعيةDoença de Charcot-Marie-Tooth ligado ao X em crianças: série de casos tipo 1 de pacientes do HC-FMRP
المؤلفون: Cruz, Mariana Neiva
مرشدي الرسالة: Funayama, Carolina Araujo Rodrigues
مصطلحات موضوعية: Charcot-Marie-Tooth disease (CMT), Doença de Charcot-Marie-Tooth (CMT), Doença de Charcot-Marie-Tooth ligado ao X Tipo 1 (CMTX1), Hereditary peripheral neuropathies in child, Neuropatia periférica hereditária em crianças, X-linked Charcot-Marie-Tooth disease type 1 (CMTX1)
وصف الملف: application/pdf
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10
المؤلفون: Fei Yang, Li-Zhi Liu, Li Ling, Yifan Li, Zhao-Hui Chen, Xu-Sheng Huang, Bo Sun
المصدر: Chinese Medical Journal, Vol 129, Iss 9, Pp 1011-1016 (2016)
Chinese Medical Journalمصطلحات موضوعية: X-linked Charcot–Marie–Tooth Disease, Adult, Male, 0301 basic medicine, Adolescent, Genotype, Mutation, Missense, Neural Conduction, lcsh:Medicine, Gene mutation, medicine.disease_cause, Connexins, Connexin 32, Electrophysiology, Gap Junction Protein Beta 1, Genetic Mutation, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, medicine, Humans, Missense mutation, education, Gene, Genetics, education.field_of_study, Mutation, business.industry, lcsh:R, Computational Biology, General Medicine, Middle Aged, Phenotype, 030104 developmental biology, Mutation testing, Original Article, Female, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aee957ed56aa238f634713ae5867d257Test
http://www.cmj.org/article.asp?issn=0366-6999;year=2016;volume=129;issue=9;spage=1011;epage=1016;aulast=SunTest