Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: AARS2[original query] |
---|
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 |
Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia. Neurobiology of aging 2018 7 72 186.e1-186.e7. Kim Eun-Joo, Kim Young-Eun, Jang Ja-Hyun, Cho Eun-Hae, Na Duk L, Seo Sang Won, Jung Na-Yeon, Jeong Jee H, Kwon Jay C, Park Kee Hyung, Park Kyung Won, Lee Jae-Hong, Roh Jee Hoon, Kim Hee-Jin, Yoon Soo Jin, Choi Seong Hye, Jang Jae-Won, Ki Chang-Seok, Kim Seung Hy |
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases. Acta neurologica Scandinavica 2018 5 138 (4): 278-283. Taglia I, Di Donato I, Bianchi S, Cerase A, Monti L, Marconi R, Orrico A, Rufa A, Federico A, Dotti M |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: