Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: SORD[original query] |
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Association study of sorbitol dehydrogenase -888G>C polymorphism with type 2 diabetic retinopathy in Caucasian-Brazilians. Experimental eye research 2013 Oct 115 140-3. Ferreira Fábio Netto, Crispim Daisy, Canani Luís Henrique, Gross Jorge Luiz, dos Santos Kátia Gonçalv |
Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families. Frontiers in neurology 2020 12 11 603003. Xie Yongzhi, Lin Zhiqiang, Pakhrin Pukar Singh, Li Xiaobo, Wang Binghao, Liu Lei, Huang Shunxiang, Zhao Huadong, Cao Wanqian, Hu Zhengmao, Guo Jifeng, Shen Lu, Tang Beisha, Zhang Ru |
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation. European journal of neurology 2020 Dec . Frasquet Marina, Rojas-García Ricard, Argente-Escrig Herminia, Vázquez-Costa Juan Francisco, Muelas Nuria, Vílchez Juan Jesús, Sivera Rafael, Millet Elvira, Barreiro Marisa, Díaz-Manera Jordi, Turon-Sans Janina, Cortés-Vicente Elena, Querol Luis, Ramírez-Jiménez Laura, Martínez-Rubio Dolores, Sánchez-Monteagudo Ana, Espinós Carmen, Sevilla Teresa, Lupo Vincen |
Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease. Annals of clinical and translational neurology 2020 12 8 (1): 266-270. Yuan Ru-Ying, Ye Zi-Ling, Zhang Xiao-Rong, Xu Liu-Qing, He J |
Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients. Scientific reports 2021 Apr 11 (1): 8443. Laššuthová P, Mazanec R, Stan?k D, Sedlá?ková L, Plevová B, Haberlová J, Seeman |
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 |
No Association between the SORD Gene and Amyotrophic Lateral Sclerosis in a Chinese Cohort. Journal of clinical medicine 2022 11 11 (22): . Yilihamu Mubalake, He Ji, Tang Lu, Chen Yong, Liu Xiaoxuan, Fan Dongshe |
[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 |
Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement. Journal of the peripheral nervous system : JPNS 2023 8 . Lu Li, Yongzhi Xie, Sen Zeng, Xiaobo Li, Zhiqiang Lin, Shunxiang Huang, Huadong Zhao, Wanqian Cao, Lei Liu, Jun Liu, Pengfei Rong, Ruxu Zha |
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- Page last updated:Apr 22, 2024
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