Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: PPT1[original query] |
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Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain : a journal of neurology 2009 Mar 132 (Pt 3): 810-9. Kousi Maria, Siintola Eija, Dvorakova Lenka, Vlaskova Hana, Turnbull Julie, Topcu Meral, Yuksel Deniz, Gokben Sarenur, Minassian Berge A, Elleder Milan, Mole Sara E, Lehesjoki Anna-Eli |
Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis. Gene 2016 Aug . Sleat David E, Gedvilaite Erika, Zhang Yeting, Lobel Peter, Xing Jinchu |
Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy. American journal of medical genetics. Part C, Seminars in medical genetics 2020 8 184 (3): 708-717. Hull Sarah, Kiray Gulunay, Chiang John Pei-Wen, Vincent Andrea |
Integrating GWAS and eQTL to predict genes and pathways for non-syndromic cleft lip with or without palate. Oral diseases 2020 10 27 (7): 1747-1754. Yang Jing, Yu Xin, Zhu Guirong, Wang Ruimin, Lou Shu, Zhu Weihao, Fu Chengyi, Liu Jinsuo, Fan Liwen, Li Dandan, Shao Qinghua, Ma Lan, Wang Lin, Wang Zhendong, Pan Yongc |
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population. Frontiers in aging neuroscience 2021 12 13 749109. Zhao Yu-Wen, Pan Hong-Xu, Liu Zhenhua, Wang Yige, Zeng Qian, Fang Zheng-Huan, Luo Teng-Fei, Xu Kun, Wang Zheng, Zhou Xun, He Runcheng, Li Bin, Zhao Guihu, Xu Qian, Sun Qi-Ying, Yan Xin-Xiang, Tan Jie-Qiong, Li Jin-Chen, Guo Ji-Feng, Tang Bei-S |
Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene. International journal of molecular sciences 2021 12 22 (24): . Benussi Luisa, Longobardi Antonio, Kocoglu Cemile, Carrara Matteo, Bellini Sonia, Ferrari Clarissa, Nicsanu Roland, Saraceno Claudia, Bonvicini Cristian, Fostinelli Silvia, Zanardini Roberta, Catania Marcella, Moisse Matthieu, Van Damme Philip, Di Fede Giuseppe, Binetti Giuliano, Van Broeckhoven Christine, van der Zee Julie, Ghidoni Rober |
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- Page last updated:Apr 22, 2024
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