Zobrazeno 1 - 10
of 90
pro vyhledávání: '"Shawn E. Christ"'
Autor:
Meriah S. Schoen, Kelly M. Boland, Shawn E. Christ, Xiangqin Cui, Usha Ramakrishnan, Thomas R. Ziegler, Jessica A. Alvarez, Rani H. Singh
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Despite early diagnosis and compliance with phenylalanine (Phe)-restricted diets, many individuals with phenylketonuria (PKU) still exhibit neurological changes and experience deficits in working memory and other executive functio
Externí odkaz:
https://doaj.org/article/163ffd247e484baba6c107baa4d52a2c
Autor:
Stephanie Abgottspon, Raphaela Muri, Shawn E. Christ, Michel Hochuli, Piotr Radojewski, Roman Trepp, Regula Everts
Publikováno v:
NeuroImage: Clinical, Vol 34, Iss , Pp 102974- (2022)
Background: Phenylketonuria (PKU) is an inborn error of metabolism affecting the conversion of phenylalanine (Phe) into tyrosine. Previous research has found cognitive and functional brain alterations in individuals with PKU even if treated early. Ho
Externí odkaz:
https://doaj.org/article/52adea8091b64f7c931149b3f9fd04ad
Autor:
Kristina Aldridge, Kimberly K. Cole, Amanda J. Moffitt Gunn, Dawn Peck, Desirée A. White, Shawn E. Christ
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100647- (2020)
Past murine studies of phenylketonuria (PKU) have documented significant effects on cerebellum at both the gross and cellular levels. The profile of neurocognitive and motor difficulties associated with early-treated PKU (ETPKU) is also consistent wi
Externí odkaz:
https://doaj.org/article/51acef2a21e540b586c870bf86d3f51b
Autor:
Erik A. Koppes, Bethany K. Redel, Marie A. Johnson, Kristen J. Skvorak, Lina Ghaloul-Gonzalez, Megan E. Yates, Dale W. Lewis, Susanne M. Gollin, Yijen L. Wu, Shawn E. Christ, Martine Yerle, Angela Leshinski, Lee D. Spate, Joshua A. Benne, Stephanie L. Murphy, Melissa S. Samuel, Eric M. Walters, Sarah A. Hansen, Kevin D. Wells, Uta Lichter-Konecki, Robert A. Wagner, Joseph T. Newsome, Steven F. Dobrowolski, Jerry Vockley, Randall S. Prather, Robert D. Nicholls
Publikováno v:
JCI Insight, Vol 5, Iss 20 (2020)
Phenylalanine hydroxylase–deficient (PAH-deficient) phenylketonuria (PKU) results in systemic hyperphenylalaninemia, leading to neurotoxicity with severe developmental disabilities. Dietary phenylalanine (Phe) restriction prevents the most deleteri
Externí odkaz:
https://doaj.org/article/25a4c7bc5404441d96bc2b097f4c68db
Autor:
Neetu Nair, John P. Hegarty, II, Bradley J. Ferguson, Patrick M. Hecht, Michael Tilley, Shawn E. Christ, David Q. Beversdorf
Publikováno v:
NeuroImage, Vol 208, Iss , Pp 116407- (2020)
Aim: Our purpose was to examine how stress affects functional connectivity (FC) in language processing regions of the brain during a verbal problem solving task associated with creativity. We additionally explored how gender and the presence of the s
Externí odkaz:
https://doaj.org/article/388983e9a8b44a509e41057ed59f09bb
Autor:
Zoë Hawks, Joshua Shimony, Jerrel Rutlin, Dorothy K. Grange, Shawn E. Christ, Desirée A. White
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 8-13 (2017)
Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as “responders.” Although prior research has identified biochemical and genotypic
Externí odkaz:
https://doaj.org/article/ab8317c1c00a4f3c88ab34c6b0b96482
Publikováno v:
Molecular Genetics and Metabolism. 137:249-256
Abnormalities of the cortical white matter are the most prominent and widely-reported neurological findings in individuals with early-treated phenylketonuria (ETPKU). Much less is known regarding the effects of ETPKU on gray matter structures in the
Autor:
Shawn E. Christ, Hayley E. Clocksin, Maia Zalik, Benjamin D. Goodlett, Stephanie J. Sacharow, Emily E. Abbene
Publikováno v:
Molecular Genetics and Metabolism. 139:107579
Autor:
Kimberly E Bodner, Lindsay E Kester, Mackenzie N Cissne, Judith H. Miles, Amanda J. Moffitt Gunn, Shawn E. Christ
Publikováno v:
Journal of Autism and Developmental Disorders. 52:1896-1902
The present study evaluated the hypothesis that the strength of the relationship between executive function (EF) and repetitive behaviors and restricted interests (RBRI) symptomatology is moderated by the degree to which concurrent demands are placed
Autor:
Barbara K. Burton, Álvaro Hermida, Amaya Bélanger-Quintana, Heather Bell, Kendra J. Bjoraker, Shawn E. Christ, Mitzie L. Grant, Cary O. Harding, Stephan C.J. Huijbregts, Nicola Longo, Markey C. McNutt, Mina D. Nguyen-Driver, André L. Santos Pessoa, Júlio César Rocha, Stephanie Sacharow, Amarilis Sanchez-Valle, H. Serap Sivri, Jerry Vockley, Mark Walterfang, Sarah Whittle, Ania C. Muntau
Publikováno v:
Molecular genetics and metabolism. 137(1-2)
Early treated patients with phenylketonuria (PKU) often become lost to follow-up from adolescence onwards due to the historical focus of PKU care on the pediatric population and lack of programs facilitating the transition to adulthood. As a result,