Human Genome Epidemiology Literature Finder
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Records 1 - 4 (of 4 Records) |
| Query Trace: Disease and AARS2[original query] |
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| Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA 2014 Jul 312 (1): 68-77. Taylor Robert W, Pyle Angela, Griffin Helen, Blakely Emma L, Duff Jennifer, He Langping, Smertenko Tania, Alston Charlotte L, Neeve Vivienne C, Best Andrew, Yarham John W, Kirschner Janbernd, Schara Ulrike, Talim Beril, Topaloglu Haluk, Baric Ivo, Holinski-Feder Elke, Abicht Angela, Czermin Birgit, Kleinle Stephanie, Morris Andrew A M, Vassallo Grace, Gorman Grainne S, Ramesh Venkateswaran, Turnbull Douglass M, Santibanez-Koref Mauro, McFarland Robert, Horvath Rita, Chinnery Patrick |
| Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. European journal of human genetics : EJHG 2018 2 26 (4): 537-551. Kamps Rick, Szklarczyk Radek, Theunissen Tom E, Hellebrekers Debby M E I, Sallevelt Suzanne C E H, Boesten Iris B, de Koning Bart, van den Bosch Bianca J, Salomons Gajja S, Simas-Mendes Marisa, Verdijk Rob, Schoonderwoerd Kees, de Coo Irenaeus F M, Vanoevelen Jo M, Smeets Hubert J |
| Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies. Frontiers in neurology 2019 10 1321. Wang Xingao, Wang Qun, Tang Hefei, Chen Bin, Dong Xiang, Niu Songtao, Li Shaowu, Shi Yuzhi, Shan Wei, Zhang Zaiqia |
| Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Estimation of pathological lesion stage from brain images. Journal of the neurological sciences 2024 5 461 123027. Michiaki Kinoshita, Kiyomitsu Oyanagi, Akira Matsushima, Yasufumi Kondo, Shigeki Hirano, Keisuke Ishizawa, Kenji Ishihara, Seishi Terada, Teruhiko Inoue, Ikuru Yazawa, Yukihiko Washimi, Mitsunori Yamada, Jun Nakayama, Yoshio Mitsuyama, Shu-Ichi Ikeda, Yoshiki Sekiji |
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