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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Disease and MORC2[original query]
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
Annals of neurology 2015 Dec .
Albulym Obaid M, Kennerson Marina L, Harms Matthew B, Drew Alexander P, Siddell Anna H, Auer-Grumbach Michaela, Pestronk Alan, Connolly Anne, Baloh Robert H, Zuchner Stephan, Reddel Stephen W, Nicholson Garth
MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.
Brain : a journal of neurology 2016 Jun .
Zhao Xin, Li Xiaobo, Hu Zhengmao, Liu Lei, Xie Yongzhi, Tian Tian, Man Jianfen, Wang Juan, Zi Xiaohong, Xia Kun, Tang Beisha, Wei Xiaoming, Zhang Ru
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
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
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
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
International journal of molecular sciences 2023 1 24 (2): .
Kistol Denis, Tsygankova Polina, Krylova Tatiana, Bychkov Igor, Itkis Yulia, Nikolaeva Ekaterina, Mikhailova Svetlana, Sumina Maria, Pechatnikova Natalia, Kurbatov Sergey, Bostanova Fatima, Migiaev Ochir, Zakharova Ekateri
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