Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Charcot-Marie-Tooth Disease and SH3TC2[original query] |
---|
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 |
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 |
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 |
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants. Journal of the neurological sciences 2019 10 406 116376. Lerat J, Magdelaine C, Lunati A, Dzugan H, Dejoie C, Rego M, Beze Beyrie P, Bieth E, Calvas P, Cintas P, Delaubrier A, Demurger F, Gilbert-Dussardier B, Goizet C, Journel H, Laffargue F, Magy L, Taithe F, Toutain A, Urtizberea J A, Sturtz F, Lia A |
Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies. European journal of neurology 2020 9 28 (1): 297-304. McMacken G, Whittaker R G, Charlton R, Barresi R, Lochmüller H, Horvath |
Investigation of Mutations in Exon 14 of SH3TC2 Gene and Exon 7 of NDRG1 Gene in Iranian Charcot-Marie-Tooth Disease Type 4 (CMT4D) Patients. Iranian journal of child neurology 2020 4 14 (2): 93-100. Moosavi Rahmaneh Sadat, Jahangir Sooltani Niloofar, Houshmand Masso |
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 |
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 |
Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients. Acta neurologica Belgica 2021 2 122 (5): 1169-1175. Sun Bo, He Zheng-Qing, Li Yan-Ran, Bai Jiong-Ming, Wang Hao-Ran, Wang Hong-Fen, Cui Fang, Yang Fei, Huang Xu-She |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: