PMC Links for Nucleotide (Select 548923783) - PMC

Select item 59853561.

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy

Dorota Piekutowska-Abramczuk, Zahra Assouline, Lavinija Mataković, René G. Feichtinger, Eliška Koňařiková, Elżbieta Jurkiewicz, Piotr Stawiński, Mirjana Gusic, Andreas Koller, Agnieszka Pollak, Piotr Gasperowicz, Joanna Trubicka, Elżbieta Ciara, Katarzyna Iwanicka-Pronicka, Dariusz Rokicki, Sylvain Hanein, Saskia B. Wortmann, Wolfgang Sperl, Agnès Rötig, Holger Prokisch, Ewa Pronicka, Rafał Płoski, Giulia Barcia, Johannes A. Mayr

Am J Hum Genet. 2018 Mar 1; 102(3): 460–467. Published online 2018 Feb 8. doi: 10.1016/j.ajhg.2018.01.008

PMCID:: PMC5985356

Abstract Article PDF–1.5M

Select item 56881152.

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency

Syeda T. Ahmed, Charlotte L. Alston, Sila Hopton, Langping He, Iain P. Hargreaves, Gavin Falkous, Monika Oláhová, Robert McFarland, Doug M. Turnbull, Mariana C. Rocha, Robert W. Taylor

Sci Rep. 2017; 7: 15676. Published online 2017 Nov 15. doi: 10.1038/s41598-017-14623-2

PMCID:: PMC5688115

Abstract Article PDF–2.8M

Select item 38910543.

Genome-Wide Association Study Identifies Novel Loci Associated With Concentrations of Four Plasma Phospholipid Fatty Acids in the De Novo Lipogenesis Pathway: Results from the CHARGE Consortium

Jason H.Y. Wu, Rozenn N. Lemaitre, Ani Manichaikul, Weihua Guan, Toshiko Tanaka, Millennia Foy, Edmond K. Kabagambe, Luc Djousse, David Siscovick, Amanda M. Fretts, Catherine Johnson, Irena B. King, Bruce M. Psaty, Barbara McKnight, Stephen S. Rich, Yii-Der I. Chen, Jennifer A. Nettleton, Weihong Tang, Stefania Bandinelli, David R. Jacobs, Jr, Brian L. Browning, Cathy C. Laurie, Xiangjun Gu, Michael Y. Tsai, Lyn M. Steffen, Luigi Ferrucci, Myriam Fornage, Dariush Mozaffarian

Circ Cardiovasc Genet. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Circ Cardiovasc Genet. 2013 Apr; 6(2): 171–183. Published online 2013 Jan 29. doi: 10.1161/CIRCGENETICS.112.964619

PMCID:: PMC3891054

Abstract Article PDF–1.9M

Select item 10837324.

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann

EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058

PMCID:: PMC1083732

Abstract Article PDF–375K

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