Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: SPTLC1[original query] |
---|
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain : a journal of neurology 2009 Oct 132 (Pt 10): 2699-711. Rotthier Annelies, Baets Jonathan, De Vriendt Els, Jacobs An, Auer-Grumbach Michaela, Lévy Nicolas, Bonello-Palot Nathalie, Kilic Sara Sebnem, Weis Joachim, Nascimento Andrés, Swinkels Marielle, Kruyt Moyo C, Jordanova Albena, De Jonghe Peter, Timmerman Vince |
Gender and single nucleotide polymorphisms in MTHFR, BHMT, SPTLC1, CRBP2, CETP, and SCARB1 are significant predictors of plasma homocysteine normalized by RBC folate in healthy adults. The Journal of nutrition 2012 Jul . Clifford AJ, Chen K, McWade L, Rincon G, Kim SH, Holstege DM, Owens JE, Liu B, Müller HG, Medrano JF, Fadel JG, Moshfegh AJ, Baer DJ, Novotny JA |
Genetic variation modifies risk for neurodegeneration based on biomarker status.
Frontiers in aging neuroscience 2014 6 183. Hohman Timothy J, Koran Mary Ellen I, Thornton-Wells Tricia A, |
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 |
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG 2021 Nov . Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel |
[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 |
Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis. Human genomics 2023 3 17 (1): 28. Li Chunyu, Hou Yanbing, Wei Qianqian, Lin Junyu, Jiang Zheng, Jiang Qirui, Yang Tianmi, Xiao Yi, Huang Jingxuan, Cheng Yangfan, Ou Ruwei, Liu Kuncheng, Chen Xueping, Song Wei, Zhao Bi, Wu Ying, Cao Bei, Chen Yongping, Shang Huifa |
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort. Brain communications 2023 3 5 (2): fcad037. Themistocleous Andreas C, Baskozos Georgios, Blesneac Iulia, Comini Maddalena, Megy Karyn, Chong Sam, Deevi Sri V V, Ginsberg Lionel, Gosal David, Hadden Robert D M, Horvath Rita, Mahdi-Rogers Mohamed, Manzur Adnan, Mapeta Rutendo, Marshall Andrew, Matthews Emma, McCarthy Mark I, Reilly Mary M, Renton Tara, Rice Andrew S C, Vale Tom A, van Zuydam Natalie, Walker Suellen M, Woods Christopher Geoffrey, Bennett David L |
Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans. The British journal of dermatology 2023 1 188 (1): 94-99. Jägle Sabine, Hsu Hao-Hsiang, Juratli Hazem A, Zimmer Andreas D, Prieschl Amelie, Alter Svenja, Wiedenhofer Bernhard, Metze Dieter, Emmert Steffen, Fischer Judi |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: