Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Courtney Sprouse"'
Autor:
Ileana Pacheco-Colón, Stuart D Washington, Courtney Sprouse, Guy Helman, Andrea L Gropman, John W VanMeter
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0129595 (2015)
Ornithine transcarbamylase deficiency (OTCD) is an X-chromosome linked urea cycle disorder (UCD) that causes hyperammonemic episodes leading to white matter injury and impairments in executive functioning, working memory, and motor planning. This stu
Externí odkaz:
https://doaj.org/article/a98343ea51074e1a88f198280549e3c7
Autor:
Chelsea L. Deschamps, Jane Shearer, Zachary Kendrick, Courtney Sprouse, Hans J. Vogel, Joseph A. Houmard, Linda S. Pescatello, Joseph M. Devaney, Dustin S. Hittel, Eric P. Hoffman, Gina M. Many, Heather Gordish-Dressman, Whitney Barfield, Laura L. Tosi
Publikováno v:
Applied Physiology, Nutrition, and Metabolism. 42:278-284
Studies of physical activity behaviours have increasingly shown the importance of heritable factors such as genetic variation. Nonsynonymous polymorphisms of alpha-actinin 3 (ACTN3) and the β-adrenergic receptors 1 and 3 (ADRB1 and ADRB3) have been
Autor:
Patrick S. Malone, Gustavo Deco, Clara A. Scholl, Maximilian Riesenhuber, Xiong Jiang, Courtney Sprouse, Richard Klein, Klaus Wimmer, Lynne E. Bernstein, Philip Cho, Levan Bokeria, Katharina Glomb, Silvio P. Eberhardt
Publikováno v:
Human Brain Mapping
RECERCAT (Dipòsit de la Recerca de Catalunya)
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Recercat. Dipósit de la Recerca de Catalunya
instname
Hum Brain Mapp
RECERCAT (Dipòsit de la Recerca de Catalunya)
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Recercat. Dipósit de la Recerca de Catalunya
instname
Hum Brain Mapp
The grouping of sensory stimuli into categories is fundamental to cognition. Previous research in the visual and auditory systems supports a two-stage processing hierarchy that underlies perceptual categorization: (a) a “bottom-up” perceptual sta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e50a4e0f371d397c3d8648a7d0419e92
https://hdl.handle.net/21.11116/0000-0003-543D-B
https://hdl.handle.net/21.11116/0000-0003-543D-B
Autor:
Paul S. Visich, Kasra Adham, Stephanie Moeckel-Cole, Priscilla M. Clarkson, E. Funda Orkunoglu-Suer, Jason S. Lipof, Amy K. Kearns, Monica J. Hubal, Justin S. Larkin, Niall M. Moyna, Joseph M. Devaney, Paul D. Thompson, Laura L. Tosi, Ronak R. Patel, Linda S. Pescatello, Eric P. Hoffman, Heather Gordish-Dressman, Courtney Sprouse, Robert F. Zoeller, Paul M. Gordon, Theodore J. Angelopoulos
Publikováno v:
Diabetes. 63:363-368
Genome-wide association studies have identified thousands of variants that are associated with numerous phenotypes. One such variant, rs13266634, a non-synonymous single nucleotide polymorphism in the solute carrier family 30 (zinc transporter) membe
Autor:
Emily Stapleton, Rick Peret, Francie L. Mitchell, Laura L. Tosi, Kathryn Haskell, Courtney Sprouse, Carole A. Samango-Sprouse, Andrea L. Gropman, Teresa Sadeghin
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 163:44-49
49, XXXXY is a rare aneuploidy and variant of Klinefelter syndrome, occurring in 1 per 80,000-100,000 live births. We present a cohort of 40 affected males, focusing on musculoskeletal problems. Subjects were participants in an annual 49er family sup
Autor:
Karuna Panchapakesan, Joseph M. Devaney, Heather Gordish-Dressman, Mai S. Abdel-Ghani, Brenda Niederberger, Laura L. Tosi, Courtney Sprouse, Karen R. Kelly
Publikováno v:
Military medicine. 180(9)
Muscle-specific creatine kinase is thought to play an integral role in maintaining energy homeostasis by providing a supply of creatine phosphate. The genetic variant, rs8111989, contributes to individual differences in physical performance, and thus
Autor:
Carole A. Samango-Sprouse, Andrea L. Gropman, Teresa Sadeghin, Patrick Lawson, Emily Stapleton, Courtney Sprouse
Publikováno v:
American journal of medical genetics. Part A. (5)
Kleefstra syndrome (KS) is a rare neurogenetic disorder most commonly caused by deletion in the 9q34.3 chromosomal region and is associated with intellectual disabilities, severe speech delay, and motor planning deficits. To our knowledge, this is th
Autor:
Paul S. Visich, Ronak R. Patel, Theodore J. Angelopoulos, Niall M. Moyna, Monica J. Hubal, Paul M. Gordon, Joseph M. Devaney, E. Funda Orkunoglu-Suer, Jason S. Lipof, Robert F. Zoeller, Kasra Adham, Stephanie Moeckel-Cole, Linda S. Pescatello, Eric P. Hoffman, Justin S. Larkin, Laura L. Tosi, Priscilla M. Clarkson, Heather Gordish-Dressman, Courtney Sprouse, Paul D. Thompson, Amy K. Kearns
Publikováno v:
Diabetes. 63(5)
The authors wish to thank Dr. Weijers (1) for his insightful comments on our article (2). Dr. Weijers is correct that most genetic variants identified using genome-wide association studies (GWAS) are not yet currently used in clinical practice to pre
Autor:
Leticia M. Ryan, Joseph M. Devaney, Heather Gordish-Dressman, Laura L. Tosi, Courtney Sprouse
Publikováno v:
The FASEB Journal. 28
Objective: Explore whether total calcium consumption modulates obesity phenotypes in African American children (AA) possessing risk alleles for development of type 2 diabetes (T2D). Methods: 142 AA children (5 to 9 yrs) were genotyped for alleles ass
Autor:
Courtney Sprouse, Ileana Pacheco-Colón, Andrew L. Breeden, Andrea L. Gropman, Rebecca Seltzer, Jessica E. King, John W. VanMeter, Kyle F. Shattuck, Guy Helman
Publikováno v:
Molecular genetics and metabolism. 113(1-2)
Background : Urea cycle disorders are caused by dysfunction in any of the six enzymes and two transport proteins involved in urea biosynthesis. Our study focuses on ornithine transcarbamylase deficiency (OTCD), an X-linked disorder that results in a