Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 30 Records) |
| Query Trace: Disease and MPZ[original query] |
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| [PCR in the gene diagnosis of Charcot-Marie-Tooth disease]. Zhonghua yi xue za zhi 2002 1 81 (3): 138-41. Xiao J, Tang B, Xia |
| 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 |
| Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genetics in medicine : official journal of the American College of Medical Genetics 2006 Feb 8 (2): 86-92. Szigeti Kinga, Garcia Carlos A, Lupski James |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy. Journal of neurology, neurosurgery, and psychiatry 2024 6 . Alessandro Bertini, Luca Gentile, Tiziana Cavallaro, Stefano Tozza, Paola Saveri, Massimo Russo, Sara Massucco, Yuri Matteo Falzone, Emilia Bellone, Federica Taioli, Alessandro Geroldi, Giuseppe Occhipinti, Moreno Ferrarini, Eleonora Cavalca, Luca Crivellari, Paola Mandich, Francesca Balistreri, Stefania Magri, Franco Taroni, Stefano Carlo Previtali, Angelo Schenone, Marina Grandis, Fiore Manganelli, Gian Maria Fabrizi, Anna Mazzeo, Davide Pareyson, Chiara Pisciot |
| Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants. European journal of neurology 2025 1 32 (1): e16572. Arman Cakar, Ayse Candayan, Gulandam Bag?rova, Zehra Oya Uyguner, Serdar Ceylaner, Hacer Durmus, Esra Battaloglu, Yesim Parm |
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