Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 30 Records) |
| Query Trace: Charcot-Marie-Tooth Disease and PMP22[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 |
| 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 |
| The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease. Acta biochimica Polonica 2010 57 (3): 373-7. Sinkiewicz-Darol Elena, Kabzi?ska Dagmara, Moszy?ska Izabela, Kocha?ski Andrz |
| 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 |
| [Detection of the PMP22 gene duplication in peripheral neuropathy patients: a study in Mexican population]. Revista de neurologia 2014 Aug 59 (3): 111-7. Cortés Hernán, Hernández-Hernández Óscar, Bautista-Tirado Teresa, Escobar-Cedillo Rosa Elena, Magaña Jonathan J, Leyva-García Norber |
| 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 |
| 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 |
| 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 |
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, |
| Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. Journal of human genetics 2019 12 65 (3): 313-323. Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R, Giguet-Valard A G, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V, Desvignes J P, Béroud C, Nguyen K, Verschueren A, Lévy N, Attarian S, Delague V, Missirian C, Bonello-Palot |
| Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease. Frontiers in neurology 2020 7 11 630. Liu Xiaoxuan, Duan Xiaohui, Zhang Yingshuang, Fan Dongshe |
| Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients. Journal of medical genetics 2020 May . Volodarsky Michael, Kerkhof Jennifer, Stuart Alan, Levy Michael, Brady Lauren I, Tarnopolsky Mark, Lin Hanxin, Ainsworth Peter, Sadikovic Bek |
| Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China. European journal of neurology 2021 7 28 (11): 3774-3783. Xie Yongzhi, Lin Zhiqiang, Liu Lei, Li Xiaobo, Huang Shunxiang, Zhao Huadong, Wang Binghao, Zeng Sen, Cao Wanqian, Li Lu, Zhu Xiying, Huang Siwei, Yang Honglan, Wang Mengli, Hu Zhengmao, Wang Junling, Guo Jifeng, Shen Lu, Jiang Hong, Zuchner Stephan, Tang Beisha, Zhang Ru |
| Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease. BMC medical genomics 2021 7 14 (1): 174. Kanwal Sumaira, Choi Yu JIn, Lim Si On, Choi Hee Ji, Park Jin Hee, Nuzhat Rana, Khan Aneela, Perveen Shazia, Choi Byung-Ok, Chung Ki W |
| 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 |
| Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GNB4 Mutations. Life (Basel, Switzerland) 2021 6 11 (6): . Kwon Hye Mi, Kim Hyun Su, Kim Sang Beom, Park Jae Hong, Nam Da Eun, Lee Ah Jin, Nam Soo Hyun, Hwang Soohyun, Chung Ki Wha, Choi Byung- |
| Characteristics of Clinical and Electrophysiological Pattern in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth 4C. Frontiers in neurology 2021 3 12 598168. Duan Xiaohui, Ma Yan, Fan Dongsheng, Liu Xiaoxu |
| 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 |
| Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study. Journal of the peripheral nervous system : JPNS 2021 Nov . Nam Da Eun, Park Jin Hee, Park Cho Eun, Jung Na Young, Nam Soo Hyun, Kwon Hye Mi, Kim Hyun Su, Kim Sang Beom, Son Won Seok, Choi Byung-Ok, Chung Ki W |
| Cerebellar White Matter Abnormalities in Charcot-Marie-Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis. Journal of clinical medicine 2021 11 10 (21): . Hwang Sungeun, Park Chang-Hyun, Kim Regina Eun-Young, Kim Hyeon Jin, Choi Yun Seo, Kim Sol-Ah, Yoo Jeong Hyun, Chung Ki Wha, Choi Byung-Ok, Lee Hyang Wo |
| Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients. Frontiers in genetics 2023 7 14 1188361. Yan Ma, Xiaohui Duan, Xiaoxuan Liu, Dongsheng F |
| Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand. Journal of neuromuscular diseases 2023 11 . Pimchanok Kulsirichawaroj, Yanin Suksangkharn, Da Eun Nam, Theeraphong Pho-Iam, Chanin Limwongse, Ki Wha Chung, Oranee Sanmaneechai, Stephan L Zuchner, Byung-Ok Ch |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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