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Lancet Neurology, The, ISSN 1474-4422, 2016, Volume 15, Issue 4, pp. 391 - 404
Journal Article
by Do, Ron and Stitziel, Nathan O and Won, Hong-Hee and Jørgensen, Anders Berg and Duga, Stefano and Angelica Merlini, Pier and Kiezun, Adam and Farrall, Martin and Goel, Anuj and Zuk, Or and Guella, Illaria and Asselta, Rosanna and Lange, Leslie A and Peloso, Gina M and Auer, Paul L and Girelli, Domenico and Martinelli, Nicola and Farlow, Deborah N and DePristo, Mark A and Roberts, Robert and Stewart, Alexander F. R and Saleheen, Danish and Danesh, John and Epstein, Stephen E and Sivapalaratnam, Suthesh and Hovingh, G. Kees and Kastelein, John J and Samani, Nilesh J and Schunkert, Heribert and Erdmann, Jeanette and Shah, Svati H and Kraus, William E and Davies, Robert and Nikpay, Majid and Johansen, Christopher T and Wang, Jian and Hegele, Robert A and Hechter, Eliana and Marz, Winfried and Kleber, Marcus E and Huang, Jie and Johnson, Anew D and Li, Mingyao and Burke, Greg L and Gross, Myron and Liu, Yongmei and Assimes, Themistocles L and Heiss, Gerardo and Lange, Ethan M and Folsom, Aaron R and Taylor, Herman A and Olivieri, Oliviero and Hamsten, Anders and Clarke, Robert and Reilly, Dermot F and Yin, Wu and Rivas, Manuel A and Donnelly, Peter and Rossouw, Jacques E and Psaty, Bruce M and Herrington, David M and Wilson, James G and Rich, Stephen S and Bamshad, Michael J and Tracy, Russell P and Cupples, L. Aienne and Rader, Daniel J and Reilly, Muredach P and Spertus, John A and Cresci, Sharon and Hartiala, Jaana and Tang, W. H. Wilson and Hazen, Stanley L and Allayee, Hooman and Reiner, Alex P and Carlson, Christopher S and Kooperberg, Charles and Jackson, Rebecca D and Boerwinkle, Eric and Lander, Eric S and Schwartz, Stephen M and Siscovick, David S and McPherson, Ruth and Tybjaerg-Hansen, Anne and Abecasis, Goncalo R and Watkins, Hugh and Nickerson, Deborah A and Ardissino, Diego and Sunyaev, Shamil R and O'Donnell, Christopher J and Altshuler, David and Gabriel, Stacey and Kathiresan, Sekar and Gabriel, Stacey B and Altshuler, David M and Abecasis, Gonçalo R and Daly, Mark J and de Bakker, Paul I. W and Fennell, Tim and Garimella, Kiran and ... and NHLBI Exome Sequencing Project
Nature, ISSN 0028-0836, 2015, Volume 518, Issue 7537, pp. 102 - +
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2010, Volume 107, Issue 18, pp. 8404 - 8409
Journal Article
ACTA NEUROPATHOLOGICA, ISSN 0001-6322, 09/2011, Volume 122, Issue 3, pp. 331 - 341
Spinal muscular atrophy (SMA) is a neurodegenerative disease resulting from decreased levels of survival motor neuron 1 (SMN1) protein. Reduced SMN1 levels are... 
MOTOR-NEURONS | PROTEIN | PHOSPHORYLATION | SMA | NMJ | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | KINESIN | GENE | SMN | Synaptic release | DISEASE | Neurofilaments | MICE | Axonal transport | NEUROMUSCULAR-JUNCTIONS | SEVERITY
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2013, Volume 110, Issue 12, pp. 4768 - 4773
Journal Article
by Lange, Leslie A and Lange, Ethan M and Lange, Christoph and Hu, Youna and Zhang, Qunyuan and Zhang, Ji and Zhang, He and Xue, Chenyi and Schmidt, Ellen M and Tang, Hua and Tang, Zheng-Zheng and Bizon, Chris and Smith, Nicholas L and Smith, Joshua D and Smith, Albert V and Turner, Emily H and Jun, Goo and Kang, Hyun Min and Peloso, Gina and Auer, Paul L and Auer, Paul and Li, Kuo-ping and Li, Mingyao and Li, Yun and Li, Bingshan and Li, Dalin and Flannick, Jason and Fuchsberger, Christian and Gaulton, Kyle and Lindgren, Cecilia and Locke, Adam and Manning, Alisa and Sim, Xueling and Rivas, Manuel A and Holmen, Oddgeir L and Gottesman, Omri and Lu, Yingchang and Ruderfer, Douglas and Stahl, Eli A and Duan, Qing and Durda, Peter and Durda, J. Peter and Jiao, Shuo and Isaacs, Aaron and Hofman, Albert and Bis, Joshua C and Bis, Joshua and Correa, Adolfo and Griswold, Michael E and Jakobsdottir, Johanna and Schreiner, Pamela and Schreiner, Pamela J and Feitosa, Mary F and Huffman, Jennifer E and Crosby, Jacy and Wassel, Chrstina L and Wassel, Christina L and Do, Ron and Franceschini, Nora and Martin, Lisa and Martin, Lisa W and Martin, Thomas R and Robinson, Jennifer G and Assimes, Themistocles L and Crosslin, David R and Rosenthal, Elisabeth A and Tsai, Michael Y and Tsai, Michael and Rieder, Mark J and Farlow, Deborah N and Folsom, Aaron R and Lumley, Thomas and Fox, Ervin R and Fox, Caroline S and Fox, P. Keolu and Fox, Ervin and Carlson, Christopher S and Peters, Ulrike and Jackson, Rebecca D and Jackson, Rebecca and van Duijn, Cornelia M and Uitterlinden, André G and Levy, Daniel and Rotter, Jerome I and Taylor, Herman A and Taylor, Kira C and Taylor, Kent and Gudnason, Vilmundur and Siscovick, David S and Fornage, Myriam and Borecki, Ingrid B and Hayward, Caroline and Rudan, Igor and Chen, Wei-Min and Chen, Y. Eugene and Chen, Donna T and Chen, Ida Y and Bottinger, Erwin P and Loos, Ruth J.F and Sætrom, Pål and ... and NHLBI Grand Opportunity Exome Sequ and NHLBI Grand Opportunity Exome Sequencing Project and Genomik, diabetes och endokrinologi and Lund University and Genomics, Diabetes and Endocrinology and Lunds universitet and EXODIAB: Excellence in Diabetes Research in Sweden
The American Journal of Human Genetics, ISSN 0002-9297, 02/2014, Volume 94, Issue 2, pp. 233 - 245
Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs)... 
OBJECTIVES | HEART-DISEASE | PLASMA | GENE | SUSCEPTIBILITY | GENETICS & HEREDITY | DENSITY-LIPOPROTEIN-CHOLESTEROL | Dyslipidemias - genetics | Genetic Code | Follow-Up Studies | Humans | Middle Aged | Male | Proprotein Convertases - genetics | Exome | Dyslipidemias - blood | Serine Endopeptidases - genetics | Adult | Female | Receptors, LDL - genetics | Genome-Wide Association Study | Gene Frequency | Genotype | <