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2011 Journal Article Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiencyKemp, John P., Smith, Paul M., Pyle, Angela, Neeve, Vivienne C. M., Tuppen, Helen A. L., Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Lochmuller, Hanns, McFarland, Robert, Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Taylor, Robert W. and Horvath, Rita (2011). Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain, 134 (1), 183-195. doi: 10.1093/brain/awq320 |
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2010 Journal Article Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential Pleiotropic effects on bonePaternoster, Lavinia, Lorentzon, Mattias, Vandenput, Liesbeth, Karlsson, Magnus K., Ljunggren, Osten, Kindmark, Andreas, Mellstrom, Dan, Kemp, John P., Jarett, Caroline E., Holly, Jeff M. P., Sayers, Adrian, St. Pourcain, Beate, Timpson, Nicholas J., Deloukas, Panos, Smith, George Davey, Ring, Ssusan M., Evans, David M., Tobias, Jon H. and Ohlsson, Claes (2010). Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential Pleiotropic effects on bone. PLoS Genetics, 6 (11) e1001217, e1001217.1-e1001217.12. doi: 10.1371/journal.pgen.1001217 |
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2009 Journal Article Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathyHorvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Andreas, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Guttab, Jayakar, Panul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Oku, Jorida, Gunther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmuller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar and Dimauro, Salvatore (2009). Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain, 132 (11), 3165-3174. doi: 10.1093/brain/awp221 |
