Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 40 Records) |
Query Trace: MPZ[original query] |
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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 |
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. BioMed research international 2014 2014 210401. Høyer Helle, Braathen Geir J, Busk Øyvind L, Holla Øystein L, Svendsen Marit, Hilmarsen Hilde T, Strand Linda, Skjelbred Camilla F, Russell Michael |
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 |
[The clinical presentation and gene mutation of probands in Chinese patients with Charcot-Marie-Tooth disease]. Zhonghua nei ke za zhi 2015 Jul 54 (7): 623-7. Liu Xiaoxuan, Fan Dongsheng, Song Shuju |
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 |
Evidence for Association of Cell Adhesion Molecules Pathway and NLGN1 Polymorphisms with Schizophrenia in Chinese Han Population. PloS one 2015 10 (12): e0144719. Zhang Zhengrong, Yu Hao, Jiang Sisi, Liao Jinmin, Lu Tianlan, Wang Lifang, Zhang Dai, Yue Weih |
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences 2015 53 (3): 270-4. Madej-Pilarczyk A, Kotruchow K, Kabzinska D, Cegielska J, Kochanski A, Hausmanowa-Petrusewicz |
Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease. Clinica chimica acta; international journal of clinical chemistry 2015 Oct . Wang Rui, He Jin, Li Jing-Jin, Ni Wang, Wu Zhi-Ying, Chen Wan-Jin, Wang |
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 |
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population. Scientific reports 2016 6 29088. Wang Yan, Peng Wei, Guo Hong-Yan, Li Hui, Tian Jie, Shi Yu-Jing, Yang Xiao, Yang Yao, Zhang Wan-Qiao, Liu Xin, Liu Guan-Nan, Deng Tao, Sun Yi-Min, Xing Wan-Li, Cheng Jing, Feng Zhi-Ch |
Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. Neurology 2016 May 86 (19): 1762-71. Wang Wei, Wang Chen, Dawson D Brian, Thorland Erik C, Lundquist Patrick A, Eckloff Bruce W, Wu Yanhong, Baheti Saurabh, Evans Jared M, Scherer Steven S, Dyck Peter J, Klein Christopher |
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene? Brain and behavior 2016 Mar e00451. Werheid Friederike, Azzedine Hamid, Zwerenz Eva, Bozkurt Ahmet, Moeller Marcus J, Lin Lilian, Mull Michael, Häusler Martin, Schulz Jörg B, Weis Joachim, Claeys Kristl |
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 |
Genomic variants at 20p11 associated with body fat mass in the European population.
Obesity (Silver Spring, Md.) 2017 Feb . Pei Yu-Fang, Ren Hai-Gang, Liu Lu, Li Xiao, Fang Chen, Huang Yun, Hu Wen-Zhu, Kong Wei-Wen, Feng An-Ping, You Xin-Yi, Zhao Wen, Shen Hui, Tian Qing, Zhang Yong-Hong, Deng Hong-Wen, Zhang L |
Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients. Neuromuscular disorders : NMD 2017 11 28 (1): 38-43. Milley György Máté, Varga Edina Timea, Grosz Zoltán, Nemes Csilla, Arányi Zsuzsanna, Boczán Judit, Diószeghy Péter, Molnár Mária Judit, Gál Ani |
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 |
Genetic variants, structural, and functional changes of Myelin Protein Zero and Mannose-Binding Lectin 2 protein involved in immune response and its allelic transmission in families of patients with leprosy in Colombia. Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2018 4 61 215-223. Cardona-Pemberthy Viviana, Rendón Michelle, Beltrán Juan Camilo, Soto-Ospina Alejandro, Muñoz-Gomez Amalia, Araque-Marín Pedronel, Corredor Mauricio, Bedoya Gabriel, Cardona-Castro No |
Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth. Chinese medical journal 2018 Jan 131 (2): 151-155. Zhao Xin, Jiang Ming-Ming, Yan Yi-Zhou, Liu Lei, Xie Yong-Zhi, Li Xiao-Bo, Hu Zheng-Mao, Zi Xiao-Hong, Xia Kun, Tang Bei-Sha, Zhang Ru- |
Molecular analysis and clinical diversity of distal hereditary motor neuropathy. European journal of neurology 2020 4 27 (7): 1319-1326. Liu X, Duan X, Zhang Y, Sun A, Fan |
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients. Molecular genetics & genomic medicine 2020 3 8 (5): e1205. Tsang Mandy H Y, Chiu Annie T G, Kwong Bernard M H, Liang Rui, Yu Mullin H C, Yeung Kit-San, Ho Wetor H L, Mak Christopher C Y, Leung Gordon K C, Pei Steven L C, Fung Jasmine L F, Wong Virginia C N, Muntoni Francesco, Chung Brian H Y, Chan Sophelia H |
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan. Clinical genetics 2020 11 99 (3): 359-375. Taniguchi Takaki, Ando Masahiro, Okamoto Yuji, Yoshimura Akiko, Higuchi Yujiro, Hashiguchi Akihiro, Shiga Kensuke, Hayashida Arisa, Hatano Taku, Ishiura Hiroyuki, Mitsui Jun, Hattori Nobutaka, Mizuno Toshiki, Nakagawa Masanori, Tsuji Shoji, Takashima Hiros |
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants. Frontiers in genetics 2021 8 12 682050. Ferese Rosangela, Campopiano Rosa, Scala Simona, D'Alessio Carmelo, Storto Marianna, Buttari Fabio, Centonze Diego, Logroscino Giancarlo, Zecca Chiara, Zampatti Stefania, Fornai Francesco, Cianci Vittoria, Manfroi Elisabetta, Giardina Emiliano, Magnani Mauro, Suppa Antonio, Novelli Giuseppe, Gambardella Stefa |
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 |
Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study. European journal of neurology 2021 6 28 (9): 2846-2854. Hauw Fabien, Fargeot Guillaume, Adams David, Attarian Shahram, Cauquil Cécile, Chanson Jean-Baptiste, Créange Alain, Gendre Thierry, Deiva Kumaran, Delmont Emilien, Francou Bruno, Genestet Steeve, Kuntzer Thierry, Latour Philippe, Le Masson Gwendal, Magy Laurent, Nardin Clotilde, Ochsner François, Sole Guilhem, Stojkovic Tanya, Maisonobe Thierry, Tard Céline, Van den Berghe Peter, Echaniz-Laguna Ando |
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 of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease. Brain and behavior 2022 8 12 (9): e2744. Nguyen-Le Trung-Hieu, Do Minh Duc, Le Linh Hoang Gia, Nhat Quynh Nhu Nguyen, Hoang Nghia Trong Tien, Van Le Tuan, Mai Thao Phuo |
Mutational screening of Greek patients with axonal Charcot-Marie-Tooth disease using targeted Next-Generation Sequencing: clinical & molecular spectrum delineation. Journal of the peripheral nervous system : JPNS 2023 9 . Zoi Kontogeorgiou, Chrisoula Kartanou, Michail Rentzos, Panagiotis Kokotis, Evangelos Anagnostou, Thomas Zambelis, Elisabeth Chroni, Argyris Dinopoulos, Marios Panas, Georgios Koutsis, Georgia Karadi |
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia. Frontiers in neurology 2023 9 14 1239725. Amokelani C Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A Wilson, Jana Vandrovcova, Mary M Reilly, Christopher J Record, Michael Benatar, Gang Wu, Sharika Raga, Jo M Wilmshurst, Kireshnee Naidu, Michael Hanna, Melissa Nel, Jeannine M Heckma |
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:Apr 22, 2024
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