Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 31 Records) |
| Query Trace: Charcot-marie-tooth Disease Type 4[original query] |
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| Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1. Journal of the neurological sciences 2004 Apr 219 (1-2): 95-100. Lee Yi-Chung, Soong Bing-Wen, Lin Kon-Ping, Lee Hsiang-Ying, Wu Zin-An, Kao Ker-P |
| Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients. Genetics in medicine : official journal of the American College of Medical Genetics 2006 Aug 8 (8): 532-5. Song Shujuan, Zhang Yuanzhi, Chen Biao, Zhang Yuanjin, Wang Manjie, Wang Yueying, Yan Ming, Zou Junhua, Huang Yu, Zhong Nanbe |
| A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay. Journal of human genetics 2006 51 (3): 227-35. Lin Chia-Yun, Su Yi-Ning, Lee Chien-Nan, Hung Chia-Cheng, Cheng Wen-Fang, Lin Win-Li, Chen Chi-An, Hsieh Sung-Tsa |
| Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. Archives of neurology 2009 Dec 66 (12): 1511-6. Calvo Judith, Funalot Benoît, Ouvrier Robert A, Lazaro Leila, Toutain Annick, De Mas Philippe, Bouche Pierre, Gilbert-Dussardier Brigitte, Arne-Bes Marie-Christine, Carrière Jean-Pierre, Journel Hubert, Minot-Myhie Marie-Christine, Guillou Claire, Ghorab Karima, Magy Laurent, Sturtz Franck, Vallat Jean-Michel, Magdelaine Corin |
| Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2. Journal of neurology 2011 1 258 (7): 1234-9. McCorquodale Donald S, Montenegro Gladys, Peguero Ainsley, Carlson Nicole, Speziani Fiorella, Price Justin, Taylor Sean W, Melanson Michel, Vance Jeffery M, Züchner Steph |
| Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Neurology 2014 Aug 83 (7): 612-9. Liu Yo-Tsen, Laurá Matilde, Hersheson Joshua, Horga Alejandro, Jaunmuktane Zane, Brandner Sebastian, Pittman Alan, Hughes Deborah, Polke James M, Sweeney Mary G, Proukakis Christos, Janssen John C, Auer-Grumbach Michaela, Zuchner Stephan, Shields Kevin G, Reilly Mary M, Houlden Hen |
| Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families. Annals of human genetics 2015 Sep . 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 W |
| MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. Annals of neurology 2015 Dec . Albulym Obaid M, Kennerson Marina L, Harms Matthew B, Drew Alexander P, Siddell Anna H, Auer-Grumbach Michaela, Pestronk Alan, Connolly Anne, Baloh Robert H, Zuchner Stephan, Reddel Stephen W, Nicholson Garth |
| ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain : a journal of neurology 2015 Nov . Montecchiani Celeste, Pedace Lucia, Lo Giudice Temistocle, Casella Antonella, Mearini Marzia, Gaudiello Fabrizio, Pedroso José L, Terracciano Chiara, Caltagirone Carlo, Massa Roberto, St George-Hyslop Peter H, Barsottini Orlando G P, Kawarai Toshitaka, Orlacchio Anton |
| MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2. Brain : a journal of neurology 2016 Jun . Zhao Xin, Li Xiaobo, Hu Zhengmao, Liu Lei, Xie Yongzhi, Tian Tian, Man Jianfen, Wang Juan, Zi Xiaohong, Xia Kun, Tang Beisha, Wei Xiaoming, Zhang Ru |
| Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Annals of neurology 2016 Mar . Higuchi Yujiro, Hashiguchi Akihiro, Yuan Junhui, Yoshimura Akiko, Mitsui Jun, Ishiura Hiroyuki, Tanaka Masaki, Ishihara Satoshi, Tanabe Hajime, Nozuma Satoshi, Okamoto Yuji, Matsuura Eiji, Ohkubo Ryuichi, Inamizu Saeko, Shiraishi Wataru, Yamasaki Ryo, Ohyagi Yasumasa, Kira Jun-Ichi, Oya Yasushi, Yabe Hayato, Nishikawa Noriko, Tobisawa Shinsuke, Matsuda Nozomu, Masuda Masayuki, Kugimoto Chiharu, Fukushima Kazuhiro, Yano Satoshi, Yoshimura Jun, Doi Koichiro, Nakagawa Masanori, Morishita Shinichi, Tsuji Shoji, Takashima Hiros |
| [Analysis of a Chinese Charcot-Marie-Tooth disease type 2D pedigree]. Zhonghua yi xue za zhi 2017 8 97 (27): 2095-2100. Sun B, Li Y R, Chen Z H, Ling L, Ren Y T, Liu W X, Cui F, Yang F, Pu C Q, Huang X |
| FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study. European journal of human genetics : EJHG 2017 Jan . Osmanovic Alma, Rangnau Isolde, Kosfeld Anne, Abdulla Susanne, Janssen Claas, Auber Bernd, Raab Peter, Preller Matthias, Petri Susanne, Weber Ruthild |
| IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients. Neuromuscular disorders : NMD 2016 Nov . Liu Lei, Li Xiaobo, Hu Zhengmao, Mao Xiao, Zi Xiaohong, Xia Kun, Tang Beisha, Zhang Ru |
| Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A. Neuromuscular disorders : NMD 2018 Apr . Nam Soo Hyun, Kanwal Sumaira, Nam Da Eun, Lee Min Hee, Kang Tae Hoon, Jung Sung-Chul, Choi Byung-Ok, Chung Ki W |
| Hot-spot KIF5A mutations cause familial ALS. Brain : a journal of neurology 2018 1 141 (3): 688-697. Brenner David, Yilmaz Rüstem, Müller Kathrin, Grehl Torsten, Petri Susanne, Meyer Thomas, Grosskreutz Julian, Weydt Patrick, Ruf Wolfgang, Neuwirth Christoph, Weber Markus, Pinto Susana, Claeys Kristl G, Schrank Berthold, Jordan Berit, Knehr Antje, Günther Kornelia, Hübers Annemarie, Zeller Daniel, Kubisch Christian, Jablonka Sibylle, Sendtner Michael, Klopstock Thomas, de Carvalho Mamede, Sperfeld Anne, Borck Guntram, Volk Alexander E, Dorst Johannes, Weis Joachim, Otto Markus, Schuster Joachim, Del Tredici Kelly, Braak Heiko, Danzer Karin M, Freischmidt Axel, Meitinger Thomas, Strom Tim M, Ludolph Albert C, Andersen Peter M, Weishaupt Jochen H, |
| Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. Neuromolecular medicine 2019 8 22 (1): 68-72. Deng Sheng, Feely Shawna M E, Shi Yong, Zhai Hong, Zhan Luna, Siddique Teepu, Deng Han-Xiang, Shy Michael |
| Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients. Journal of human genetics 2019 6 64 (9): 961-965. Lee Ah Jin, Nam Soo Hyun, Park Jin-Mo, Kanwal Sumaira, Choi Yu Jin, Lee Hyun Jung, Lee Kyung Suk, Lee Ji Eun, Park Jin-Sung, Choi Byung-Ok, Chung Ki W |
| A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). Annals of neurology 2019 5 86 (1): 55-67. Pareyson Davide, Stojkovic Tanya, Reilly Mary M, Leonard-Louis Sarah, Laurà Matilde, Blake Julian, Parman Yesim, Battaloglu Esra, Tazir Meriem, Bellatache Mounia, Bonello-Palot Nathalie, Lévy Nicolas, Sacconi Sabrina, Guimarães-Costa Raquel, Attarian Sharham, Latour Philippe, Solé Guilhem, Megarbane André, Horvath Rita, Ricci Giulia, Choi Byung-Ok, Schenone Angelo, Gemelli Chiara, Geroldi Alessandro, Sabatelli Mario, Luigetti Marco, Santoro Lucio, Manganelli Fiore, Quattrone Aldo, Valentino Paola, Murakami Tatsufumi, Scherer Steven S, Dankwa Lois, Shy Michael E, Bacon Chelsea J, Herrmann David N, Zambon Alberto, Tramacere Irene, Pisciotta Chiara, Magri Stefania, Previtali Stefano C, Bolino Alessand |
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.
Journal of neuromuscular diseases 2019 6 (2): 201-211. Tao Feifei, Beecham Gary W, Rebelo Adriana P, Blanton Susan H, Moran John J, Lopez-Anido Camila, Svaren John, Abreu Lisa, Rizzo Devon, Kirk Callyn A, Wu Xingyao, Feely Shawna, Verhamme Camiel, Saporta Mario A, Herrmann David N, Day John W, Sumner Charlotte J, Lloyd Thomas E, Li Jun, Yum Sabrina W, Taroni Franco, Baas Frank, Choi Byung-Ok, Pareyson Davide, Scherer Steven S, Reilly Mary M, Shy Michael E, Züchner Stephan, |
| Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Annals of neurology 2019 Mar 85 (3): 316-330. Tao Feifei, Beecham Gary W, Rebelo Adriana P, Svaren John, Blanton Susan H, Moran John J, Lopez-Anido Camila, Morrow Jasper M, Abreu Lisa, Rizzo Devon, Kirk Callyn A, Wu Xingyao, Feely Shawna, Verhamme Camiel, Saporta Mario A, Herrmann David N, Day John W, Sumner Charlotte J, Lloyd Thomas E, Li Jun, Yum Sabrina W, Taroni Franco, Baas Frank, Choi Byung-Ok, Pareyson Davide, Scherer Steven S, Reilly Mary M, Shy Michael E, Züchner Stephan, |
| Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2. Neurogenetics 2019 12 21 (2): 79-86. Lin Shan, Xu Liu-Qing, Xu Guo-Rong, Guo Ling-Ling, Lin Bi-Juan, Chen Wan-Jin, Wang Ning, Lin Yi, He J |
| Optic Neuropathy in Charcot-Marie-Tooth Disease. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2020 5 41 (2): 233-238. Hamedani Ali G, Wilson James A, Avery Robert A, Scherer Steven |
| Investigation of Mutations in Exon 14 of SH3TC2 Gene and Exon 7 of NDRG1 Gene in Iranian Charcot-Marie-Tooth Disease Type 4 (CMT4D) Patients. Iranian journal of child neurology 2020 4 14 (2): 93-100. Moosavi Rahmaneh Sadat, Jahangir Sooltani Niloofar, Houshmand Masso |
| Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients. Acta neurologica Belgica 2021 2 122 (5): 1169-1175. Sun Bo, He Zheng-Qing, Li Yan-Ran, Bai Jiong-Ming, Wang Hao-Ran, Wang Hong-Fen, Cui Fang, Yang Fei, Huang Xu-She |
| Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain : a journal of neurology 2021 1 143 (12): 3589-3602. Pipis Menelaos, Feely Shawna M E, Polke James M, Skorupinska Mariola, Perez Laura, Shy Rosemary R, Laura Matilde, Morrow Jasper M, Moroni Isabella, Pisciotta Chiara, Taroni Franco, Vujovic Dragan, Lloyd Thomas E, Acsadi Gyula, Yum Sabrina W, Lewis Richard A, Finkel Richard S, Herrmann David N, Day John W, Li Jun, Saporta Mario, Sadjadi Reza, Walk David, Burns Joshua, Muntoni Francesco, Ramchandren Sindhu, Horvath Rita, Johnson Nicholas E, Züchner Stephan, Pareyson Davide, Scherer Steven S, Rossor Alexander M, Shy Michael E, Reilly Mary M, |
| Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation. Genes & genomics 2022 5 44 (8): 1007-1016. Park Jaehong, Kim Hyun Su, Kwon Hye Mi, Kim Jiah, Nam Soo Hyun, Jung Na Young, Lee Ah Jin, Jung Young Hee, Kim Sang Beom, Chung Ki Wha, Choi Byung- |
| Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement. Journal of the peripheral nervous system : JPNS 2023 8 . Lu Li, Yongzhi Xie, Sen Zeng, Xiaobo Li, Zhiqiang Lin, Shunxiang Huang, Huadong Zhao, Wanqian Cao, Lei Liu, Jun Liu, Pengfei Rong, Ruxu Zha |
| Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients. European journal of neurology 2023 1 30 (4): 1069-1079. Lei Liu, Xiaobo Li, Zhiqiang Lin, Yongzhi Xie, Shunxiang Huang, Huadong Zhao, Beisha Tang, Ruxu Zha |
| Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease. Frontiers in genetics 2024 6 15 1381915. Olga Shchagina, Aysylu Murtazina, Polina Chausova, Mariya Orlova, Elena Dadali, Sergei Kurbatov, Sergey Kutsev, Aleksander Polyak |
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