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Links from Nucleotide

Items: 5

1.
ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment
Anne K. Braczynski, Stefan Vlaho, Klaus Müller, Ilka Wittig, Anna-Eva Blank, Dominique S. Tews, Ulrich Drott, Stephanie Kleinle, Angela Abicht, Rita Horvath, Karl H. Plate, Werner Stenzel, Hans H. Goebel, Andreas Schulze, Patrick N. Harter, Matthias Kieslich, Michel Mittelbronn
Biomed Res Int. 2015; 2015: 462592. Published online 2015 Oct 13. doi: 10.1155/2015/462592
PMCID:
PMC4621340
AbstractArticlePDF–7.3M
2.
Genome-Wide Pleiotropy of Osteoporosis-Related Phenotypes: The Framingham Study
David Karasik, Yi-Hsiang Hsu, Yanhua Zhou, L Adrienne Cupples, Douglas P Kiel, Serkalem Demissie
J Bone Miner Res. 2010 Jul; 25(7): 1555–1563. Published online 2010 Jan 29. doi: 10.1002/jbmr.38
PMCID:
PMC3153998
AbstractArticlePDF–158K
3.
Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip
Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani
Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014
PMCID:
PMC2775832
AbstractArticlePDF–2.8M
4.
Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report
Keiichi Hirono, Fukiko Ichida, Natsuhito Nishio, Minako Ogawa‐Tominaga, Takuya Fushimi, Rene′ G. Feichtinger, Johannes A. Mayr, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Akira Ohtake, Kei Murayama
Clin Case Rep. 2019 Mar; 7(3): 553–557. Published online 2019 Feb 7. doi: 10.1002/ccr3.2050
PMCID:
PMC6406168
AbstractArticlePDF–325K
5.
Layer-Specific CREB Target Gene Induction in Human Neocortical Epilepsy
Thomas L. Beaumont, Bin Yao, Aashit Shah, Gregory Kapatos, Jeffrey A. Loeb
J Neurosci. 2012 Oct 10; 32(41): 14389–14401a. doi: 10.1523/JNEUROSCI.3408-12.2012
PMCID:
PMC3478758
AbstractArticlePDF–1.5M

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