Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Charcot-Marie-Tooth Disease and MPZ[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 |
| Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. European journal of human genetics : EJHG 2009 Sep 17 (9): 1154-9. Miltenberger-Miltenyi Gabriel, Schwarzbraun Thomas, Löscher Wolfgang N, Wanschitz Julia, Windpassinger Christian, Duba Hans-Christoph, Seidl Rainer, Albrecht Gerhard, Weirich-Schwaiger Helga, Zoller Heinz, Utermann Gerd, Auer-Grumbach Michaela, Janecke Andreas |
| Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. European journal of human genetics : EJHG 2009 Sep 17 (9): 1129-34. Mandich Paola, Fossa Paola, Capponi Simona, Geroldi Alessandro, Acquaviva Massimo, Gulli Rossella, Ciotti Paola, Manganelli Fiore, Grandis Marina, Bellone Emil |
| Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. Journal of human genetics 2011 May 56 (5): 364-8. Abe Akiko, Numakura Chikahiko, Kijima Kazuki, Hayashi Makiko, Hashimoto Taeko, Hayasaka Kiyos |
| Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease. Neuromolecular medicine 2014 Sep 16 (3): 540-50. Bergamin Giorgia, Boaretto Francesca, Briani Chiara, Pegoraro Elena, Cacciavillani Mario, Martinuzzi Andrea, Muglia Maria, Vettori Andrea, Vazza Giovanni, Mostacciuolo Maria Lui |
| Copy number variations in a population-based study of Charcot-Marie-Tooth disease. BioMed research international 2015 2015 960404. Høyer Helle, Braathen Geir J, Eek Anette K, Nordang Gry B N, Skjelbred Camilla F, Russell Michael |
| The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Molecular genetics & genomic medicine 2014 Nov 2 (6): 522-9. DiVincenzo Christina, Elzinga Christopher D, Medeiros Adam C, Karbassi Izabela, Jones Jeremiah R, Evans Matthew C, Braastad Corey D, Bishop Crystal M, Jaremko Malgorzata, Wang Zhenyuan, Liaquat Khalida, Hoffman Carol A, York Michelle D, Batish Sat D, Lupski James R, Higgins Joseph |
| Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. Journal of the peripheral nervous system : JPNS 2016 Nov . Sun Bo, Chen Zhaohui, Ling Li, Yang Fei, Huang Xushe |
| Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2017 Mar . Lorena Lorefice, Rita Murru M, Giancarlo Coghe, Giuseppe Fenu, Daniela Corongiu, Jessica Frau, Stefania Tranquilli, Paolo Tacconi, Alessandro Vannelli, Giovanni Marrosu, Elena Mamusa, Eleonora Cocco, Giovanna Marrosu |
| Clinical and genetic investigation in Chinese patients with demyelinating Charcot-Marie-Tooth disease. Journal of the peripheral nervous system : JPNS 2018 6 23 (4): 216-226. He Jin, Guo Lingling, Xu Guorong, Xu Liuqing, Lin Shan, Chen Wanjin, Wang Ni |
| Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center. Journal of the peripheral nervous system : JPNS 2021 Jun . Uchôa Cavalcanti Eduardo Boiteux, Santos Savana Camilla de Lima, Martins Carlos Eduardo Speck, de Carvalho Daniel Rocha, Rizzo Isabela Maria Pinto de Oliveira, Freitas Maria Cristina Del Negro Barroso, da Silva Freitas Denise, de Souza Francineide Sadala, Junior Altamir Monteiro, do Nascimento Osvaldo José Morei |
| Rare among Rare: Phenotypes of Uncommon CMT Genotypes. Brain sciences 2021 12 11 (12): . Gentile Luca, Russo Massimo, Taioli Federica, Ferrarini Moreno, Aguennouz M'Hammed, Rodolico Carmelo, Toscano Antonio, Fabrizi Gian Maria, Mazzeo An |
| 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 |
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- Page last updated:Sep 25, 2023
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