PMC Links for Protein (Select 343098477) - PMC

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Items: 3

Select item 44866431.

Genetic determinants of survival in patients with Alzheimer’s disease

Xingbin Wang, Oscar Lopez, Robert A. Sweet, James T. Becker, Steven T. DeKosky, Mahmud M. Barmada, Eleanor Feingold, F. Yesim Demirci, M. Ilyas Kamboh

J Alzheimers Dis. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: J Alzheimers Dis. 2015; 45(2): 651–658. doi: 10.3233/JAD-142442

PMCID:: PMC4486643

Abstract Article PDF–221K

Select item 43736922.

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

Mariella Simon, Elodie M. Richard, Xinjian Wang, Mohsin Shahzad, Vincent H. Huang, Tanveer A. Qaiser, Prasanth Potluri, Sarah E. Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-sheqaih, William G. Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N. Khan, Ronghua Li, Min-Xin Guan, Thomas B. Friedman, Doris K. Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C. Wallace, Zubair M. Ahmed, Taosheng Huang, Saima Riazuddin

PLoS Genet. 2015 Mar; 11(3): e1005097. Published online 2015 Mar 25. doi: 10.1371/journal.pgen.1005097

PMCID:: PMC4373692

Abstract Article PDF–1.8M

Select item 42997153.

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

Kalliopi Sofou, Gittan Kollberg, Maria Holmström, Marcela Dávila, Niklas Darin, Claes M Gustafsson, Elisabeth Holme, Anders Oldfors, Már Tulinius, Jorge Asin-Cayuela

Mol Genet Genomic Med. 2015 Jan; 3(1): 59–68. Published online 2014 Oct 23. doi: 10.1002/mgg3.115