Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: NEU1[original query] |
---|
Variants of the ST6GALNAC2 promoter influence transcriptional activity and contribute to genetic susceptibility to IgA nephropathy. Human mutation 2007 Oct 28 (10): 950-7. Li Gui-Sen, Zhu Li, Zhang Hong, Lv Ji-Cheng, Ding Jia-Xiang, Zhao Ming-Hui, Shen Yan, Wang Hai-Y |
Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population. PloS one 2018 13 (3): e0193547. Jiao Xiang, Liu Wen, Mahdessian Hovsep, Bryant Patrick, Ringdahl Jenny, Timofeeva Maria, Farrington Susan M, Dunlop Malcolm, Lindblom Anni |
Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene. Journal of the Formosan Medical Association = Taiwan yi zhi 2019 8 119 (1 Pt 3): 406-412. Fan Sung-Pin, Lee Ni-Chung, Lin Chin-Hsi |
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications. Parkinsonism & related disorders 2020 9 80 58-64. Kim Minkyeong, Kim Ah Reum, Kim Ji Sun, Park Jongkyu, Youn Jinyoung, Ahn Jong Hyeon, Mun Jun Kyu, Lee Chung, Kim Nam-Soon, Kim Nayoung K D, Park Woong-Yang, Cho Jin Wh |
Multiple allelic associations from genes involved in energy metabolism were identified in celiac disease. Journal of biosciences 2021 46 . Bhagavatula Sandilya, Banerjee Pratibha, Sood Ajit, Midha Vandana, Thelma B K, Senapati Sabyasac |
Novel pathogenic variant in the NEU1 gene in a patient with Sialidosis with progressive myoclonus ataxia with cherry-red spot. Neurology 2023 8 . Lulup K Sahoo, Vidyasagar Kota, Pradeep K Panigrahi, Srimant Pattnaik, Ajit P Mishra, Srikanta K Sahoo, |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: