Reconstructability analysis of genetic loci associated with Alzheimer disease

Authors: Kramer, Patricia, Westaway, Shawn K., Zwick, Martin, Shervais, Stephen

Source: The 6th International Conference on Soft Computing and Intelligent Systems, and The 13th International Symposium on Advanced Intelligence Systems Soft Computing and Intelligent Systems (SCIS) and 13th International Symposium on Advanced Intelligent Systems (ISIS), 2012 Joint 6th International Conference on. :2104-2110 Nov, 2012

Relation: 2012 Joint 6th Intl. Conference on Soft Computing and Intelligent Systems (SCIS) and 13th Intl. Symposium on Advanced Intelligent Systems (ISIS)

The effects of noncoding aquaporin-4 single-nucleotide polymorphisms on cognition and functional progression of Alzheimer's disease

Authors: Burfeind, Kevin G., Murchison, Charles F., Westaway, Shawn K., Simon, Matthew J., Erten-Lyons, Deniz, Kaye, Jeffrey A., Quinn, Joseph F., Iliff, Jeffrey J.

Source: In Alzheimer's & Dementia: Translational Research & Clinical Interventions September 2017 3(3):348-359

Alzheimer disease pathology in cognitively healthy elderly: A genome-wide study

Authors: Kramer, Patricia L., Xu, Haiyan, Woltjer, Randall L., Westaway, Shawn K., Clark, David, Erten-Lyons, Deniz, Kaye, Jeffrey A., Welsh-Bohmer, Kathleen A., Troncoso, Juan C., Markesbery, William R., Petersen, Ronald C., Turner, R. Scott, Kukull, Walter A., Bennett, David A., Galasko, Douglas, Morris, John C., Ott, Jurg

Source: In Neurobiology of Aging 2011 32(12):2113-2122

Serum Levels of α-Klotho Are Correlated with Cerebrospinal Fluid Levels and Predict Measures of Cognitive Function.

Authors: Kundu, Payel, Zimmerman, Benjamin, Quinn, Joseph F., Kaye, Jeffrey, Mattek, Nora, Westaway, Shawn K., Raber, Jacob

Source: Journal of Alzheimer's Disease; 2022, Vol. 86 Issue 3, p1471-1481, 11p

Subject Terms: CEREBROSPINAL fluid, COGNITIVE ability, MINI-Mental State Examination, APOLIPOPROTEIN E4, LUMBAR puncture

Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome.

Authors: Hayflick, Susan J., Westaway, Shawn K., Levinson, Barbara

Source: New England Journal of Medicine; January 2 2003, Vol. 348 Issue 1, p33-40, 8p

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

Authors: Zhou, Bing, Westaway, Shawn K., Levinson, Barbara, Johnson, Monique A., Gitschier, Jane, Hayflick, Susan J.

Source: Nature Genetics. Aug2001, Vol. 28 Issue 4, p345. 5p.

Subject Terms: *MICROSATELLITE repeats, *CHROMOSOMES

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Neuro-Ophthalmologic and Electroretinographic Findings in Pantothenate Kinase-Associated Neurodegeneration (formerly Hallervorden-Spatz Syndrome)

Authors: Egan, Robert A., Weleber, Richard G., Hogarth, Penelope, Gregory, Allison, Coryell, Jason, Westaway, Shawn K., Gitschier, Jane, Das, Soma, Hayflick, Susan J.

Source: In American Journal of Ophthalmology 2005 140(2):267-267

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

Alternate Title: Brief communication

Authors: Morgan, Neil V., Westaway, Shawn K., Morton, Jenny E. V.

Source: Nature Genetics; July 2006, Vol. 38 Issue 7, p752-754, 3p

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

Authors: Morgan, Neil V.¹, Westaway, Shawn K.², Morton, Jenny E. V.³, Gregory, Allison², Gissen, Paul¹, Sonek, Scott², Cangul, Hakan^1,4, Coryell, Jason², Canham, Natalie³, Nardocci, Nardo⁵, Zorzi, Giovanna⁵, Pasha, Shanaz¹, Rodriguez, Diana⁶, Desguerre, Isabelle⁷, Mubaidin, Amar⁸, Bertini, Enrico⁹, Trembath, Richard C.¹⁰, Simonati, Alessandro¹¹, Schanen, Carolyn¹², Johnson, Colin A.¹

Source: Nature Genetics. Jul2006, Vol. 38 Issue 7, p752-754. 3p. 1 Diagram, 1 Chart.

Subject Terms: *NEURODEGENERATION, *GENETIC disorders, *HUMAN chromosome abnormalities, *FAMILIAL diseases, *DYSTROPHY, *MEDICAL genetics

THE ROLE OF AQUAPORIN-4 (AQP4) SINGLE NUCLEOTIDE POLYMORPHISMS IN COGNITIVE DECLINE

Authors: Burfeind, Kevin G., Murchison, Charles F., Westaway, Shawn K., Erten-Lyons, Deniz, Kaye, Jeff A., Quinn, Joseph F., Iliff, Jeffrey J.

Source: Alzheimer's & dementia. 12(7):P1036-P1036

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100092976702.0x000001&indx=1&recIds=ETOCvdc_100092976702.0x000001

Discordant expression of miR-103/7 and pantothenate kinase host genes in mouse

Authors: Polster, Brenda J., Westaway, Shawn K., Nguyen, Thuy M., Yoon, Moon Y., Hayflick, Susan J.

Source: In Molecular Genetics and Metabolism October-November 2010 101(2-3):292-295

Cyanide and the human brain: perspectives from a model of food (cassava) poisoning.

Authors: Tshala‐Katumbay, Desire D.^1,2,3, tshalad@ohsu.edu, Ngombe, Nadege N.⁴, Okitundu, Daniel², David, Larry⁵, Westaway, Shawn K.¹, Boivin, Michael J.⁶, Mumba, Ngoyi D.^7,8, Banea, Jean‐Pierre³

Source: Annals of the New York Academy of Sciences; Aug2016, Vol. 1378 Issue 1, p50-57, 8p

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Chapter 7: Splicing of tRNA Precursors.

Authors: WESTAWAY, SHAWN K., ABELSON, JOHN

Source: tRNA: Structure, Biosynthesis & Function; 1995, p79-92, 14p

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia.

Authors: Kuo, Yien-Ming, Duncan, Jacque L., Westaway, Shawn K., Yang, Haidong, Nune, George, Xu, Eugene Yujun, Hayflick, Susan J., Gitschier, Jane

Source: Human Molecular Genetics; Jan2005, Vol. 14 Issue 1, p49-57, 9p

Mitochondrial Localization of Human PANK2 and Hypotheses of Secondary Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration.

Authors: JOHNSON, MONIQUE A.¹, KUO, YIEN MING², WESTAWAY, SHAWN K.¹, PARKER, SUSAN M.¹, CHING, KATHERINE H. L.¹, GITSCHIER, JANE², HAYFLICK, SUSAN J.^1,3

Source: Annals of the New York Academy of Sciences; 2004, Vol. 1012 Issue 1, p282-298, 17p

Common Variants in CASQ2, GPD1L, and NOS1APAre Significantly Associated With Risk of Sudden Death in Patients With Coronary Artery Disease

Authors: Westaway, Shawn K., Reinier, Kyndaron, Huertas-Vazquez, Adriana, Evanado, Audrey, Teodorescu, Carmen, Navarro, Jo, Sinner, Moritz F., Gunson, Karen, Jui, Jonathan, Spooner, Peter, Kaab, Stefan, Chugh, Sumeet S.

Source: Circulation: Cardiovascular Genetics; August 2011, Vol. 4 Issue: 4 p397-402, 6p

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