Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 64 Records) |
Query Trace: PMP22[original query] |
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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 |
Genetic epidemiology, demographic, and clinical characteristics of Charcot-Marie-tooth disease in the island of Gran Canaria (Spain). Journal of the peripheral nervous system : JPNS 2018 12 24 (1): 131-138. Lousa Manuel, Vázquez-Huarte-Mendicoa Carlos, Gutiérrez Antonio J, Saavedra Pedro, Navarro Beatriz, Tugores Anton |
Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease. Clinical genetics 2019 Aug . Chen Cong-Xin, Dong Hai-Lin, Wei Qiao, Li Li-Xi, Yu Hao, Li Jia-Qi, Liu Gong-Lu, Li Hong-Fu, Bai Ge, Ma Huan, Wu Zhi-Yi |
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, |
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients. Orphanet journal of rare diseases 2019 2 14 (1): 43. Xie Zhiying, Hou Yue, Yu Meng, Liu Yilin, Fan Yanbin, Zhang Wei, Wang Zhaoxia, Xiong Hui, Yuan Y |
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 |
Screening for genetic mutations in patients with neuropathy without definite etiology is useful. Journal of neurology 2020 5 267 (9): 2648-2654. Vogt Braden, Chahin Nizar, Wiszniewski Wojciech, Ragole Thomas, Karam Chaf |
PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India. Journal of molecular neuroscience : MN 2020 1 70 (5): 778-789. Nagappa Madhu, Sharma Shivani, Govindaraj Periyasamy, Chickabasaviah Yasha T, Siram Ramesh, Shroti Akhilesh, Debnath Monojit, Sinha Sanjib, Bindu Parayil S, Taly Arun |
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 |
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 |
The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease. Turkish neurosurgery 2021 6 31 (6): 888-895. Yalcintepe Sinem, Gurkan Hakan, Dogan Ipek Gungor, Demir Selma, Sag Sebnem Ozemri, Kabayegit Zehra Manav, Atli Emine Ikbal, Atli Engin, Eker Damla, Temel Sehime Guls |
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- |
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 |
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 |
Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy. Frontiers in neurology 2021 11 12 733926. Liu Xiaoxuan, He Ji, Yilihamu Mubalake, Duan Xiaohui, Fan Dongshe |
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 |
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 |
[Genetic distribution in Chinese patients with hereditary peripheral neuropathy]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2022 10 54 (5): 874-883. Liu X X, Duan X H, Zhang S, Sun A P, Zhang Y S, Fan D |
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 |
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 |
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- Page last updated:Apr 22, 2024
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