Nucleotide sequence of ORF2: an open reading frame upstream of the tRNA ligase gene.

Por Komatsoulis, G A, Westaway, S K, Abelson, J N
Publicado em 1987

Mutations in PLA2G6 and the riddle of Schindler disease

Por Westaway, S K, Gregory, A, Hayflick, S J, Hayflick, S J
Publicado em 2007

Reconstructability Analysis as a Tool for Identifying Gene-Gene Interactions in Studies of Human Diseases

Por Shervais, Stephen, Kramer, Patricia L., Westaway, Shawn K., Cox, Nancy J., Zwick, Martin
Publicado em 2010

Microcephaly genes and risk of late onset Alzheimer Disease

Por Erten-Lyons, Deniz, Wilmot, Beth, Anur, Pavana, McWeeney, Shannon, Westaway, Shawn K., Silbert, Lisa, Kramer, Patricia, Kaye, Jeffrey
Publicado em 2011

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

Por Kuo, Yien-Ming, Duncan, Jacque L., Westaway, Shawn K., Yang, Haidong, Nune, George, Xu, Eugene Yujun, Hayflick, Susan J., Gitschier, Jane
Publicado em 2004

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

Por Egan, Robert A., Weleber, Richard G., Hogarth, Penelope, Gregory, Allison, Coryell, Jason, Westaway, Shawn K., Gitschier, Jane, Das, Soma, Hayflick, Susan J.
Publicado em 2005

Novel Compound Heterozygous Mutations in the PANK2 Gene in a Chinese Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration

Por Zhang, Yu-hu, Tang, Bei-sha, Zhao, Ai-ling, Xia, Kun, Long, Zhi-gao, Guo, Ji-feng, Westaway, Shawn K., Hayflick, Susan J.
Publicado em 2005

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

Por Tshala-Katumbay, Desire D., Ngombe, Nadege N., Okitundu, Daniel, David, Larry, Westaway, Shawn K., Boivin, Michael J., Mumba, Ngoyi D., Banea, Jean-Pierre
Publicado no Ann N Y Acad Sci (2016)

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

Por Burfeind, Kevin G., Murchison, Charles F., Westaway, Shawn K., Simon, Matthew J., Erten-Lyons, Deniz, Kaye, Jeffrey A., Quinn, Joseph F., Iliff, Jeffrey J.
Publicado no Alzheimers Dement (N Y) (2017)

A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect

Por Rump, P., Lemmink, H. H., Verschuuren-Bemelmans, C. C., Grootscholten, P. M., Vos, Y. J., van Essen, A. J., Fock, J. M., Hayflick, S. J., Westaway, S. K.
Publicado em 2005

Common Variants in CASQ2, GPD1L and NOS1AP Are Significantly Associated with Risk of Sudden Death in Patients with Coronary Artery Disease

Por 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.
Publicado em 2011

Neurodegeneration associated with genetic defects in phospholipase A(2)

Por Gregory, A, Westaway, S K., Holm, I E., Kotzbauer, P T., Hogarth, P, Sonek, S, Coryell, J C., Nguyen, T M., Nardocci, N, Zorzi, G, Rodriguez, D, Desguerre, I, Bertini, E, Simonati, A, Levinson, B, Dias, C, Barbot, C, Carrilho, I, Santos, M, Malik, I, Gitschier, J, Hayflick, S J.
Publicado em 2008

Alzheimer Disease Pathology in Cognitively Healthy Elderly:A Genome-wide Study

Por 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, DouglasGalasko, Morris, John C, Ott, Jurg
Publicado em 2010

PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron

Por Morgan, Neil V, Westaway, Shawn K, Morton, Jenny E V, Gregory, Allison, Gissen, Paul, Sonek, Scott, Cangul, Hakan, Coryell, Jason, Canham, Natalie, Nardocci, Nardo, Zorzi, Giovanna, Pasha, Shanaz, Rodriguez, Diana, Desguerre, Isabelle, Mubaidin, Amar, Bertini, Enrico, Trembath, Richard C, Simonati, Alessandro, Schanen, Carolyn, Johnson, Colin A, Levinson, Barbara, Woods, C Geoffrey, Wilmot, Beth, Kramer, Patricia, Gitschier, Jane, Maher, Eamonn R, Hayflick, Susan J
Publicado em 2006