Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Ellen Hanson"'
Autor:
Michael S. Breen, Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett Collins, Aya Osman, Anna S. Tocheva, Mustafa Sahin, Elizabeth Berry-Kravis, Latha Soorya, Audrey Thurm, Craig M. Powell, Jonathan A. Bernstein, Alexander Kolevzon, Joseph D. Buxbaum, Simon K. Warfield, Benoit Scherrer, Rajna Filip-Dhima, Kira Dies, Paige Siper, Ellen Hanson, Jennifer M. Phillips
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100145- (2023)
Summary: Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused at least in part by haploinsufficiency of the SHANK3 gene, due to sequence variants in SHANK3 or subtelomeric 22q13.3 deletions. Phenotypic differences have been rep
Externí odkaz:
https://doaj.org/article/3468f77f03d1418b9e1044467e8fe3e3
Publikováno v:
Children, Vol 9, Iss 9, p 1322 (2022)
Objective: Insomnia and daytime behavioral problems are common issues in pediatric autism spectrum disorder (ASD), yet specific underlying relationships with NonRapid Eye Movement sleep (NREM) and Rapid Eye Movement (REM) sleep architecture are under
Externí odkaz:
https://doaj.org/article/2196ff02e1834381825f5d37f20e2f0a
Autor:
Ellen Hanson, Staffan Nilsson, Katarina Jood, Bo Norrving, Gunnar Engström, Christian Blomstrand, Arne Lindgren, Olle Melander, Christina Jern
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e75286 (2013)
Background and purposeCoagulation factor XI (FXI) has an important role in the propagation and stabilization of a thrombus upon vessel injury. High FXI levels have been implicated in thrombotic diseases including ischemic stroke. The aim of our study
Externí odkaz:
https://doaj.org/article/d87bba6ce46644319a3f589fdd233708
Autor:
Sek Won Kong, Christin D Collins, Yuko Shimizu-Motohashi, Ingrid A Holm, Malcolm G Campbell, In-Hee Lee, Stephanie J Brewster, Ellen Hanson, Heather K Harris, Kathryn R Lowe, Adrianna Saada, Andrea Mora, Kimberly Madison, Rachel Hundley, Jessica Egan, Jillian McCarthy, Ally Eran, Michal Galdzicki, Leonard Rappaport, Louis M Kunkel, Isaac S Kohane
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e49475 (2012)
Autism Spectrum Disorders (ASD) is a spectrum of highly heritable neurodevelopmental disorders in which known mutations contribute to disease risk in 20% of cases. Here, we report the results of the largest blood transcriptome study to date that aims
Externí odkaz:
https://doaj.org/article/bd29388a58af4c0ebd3d7730491c691a
Autor:
Nicole Prince, Su H. Chu, Yulu Chen, Kevin M. Mendez, Ellen Hanson, LeeAnne Green-Snyder, Elizabeth Brooks, Susan Korrick, Jessica A. Lasky-Su, Rachel S. Kelly
Publikováno v:
Brain, Behavior, and Immunity. 111:21-29
Autor:
Jean Baptiste Roullet, K. Michael Gibson, Melissa L. DiBacco, Phillip L. Pearl, Ellen Hanson, Gajja S. Salomons, Ana Pop
Publikováno v:
DiBacco, M L, Pop, A, Salomons, G S, Hanson, E, Roullet, J B, Gibson, K M & Pearl, P L 2020, ' Novel ALDH5A1 variants and genotype : Phenotype correlation in SSADH deficiency ', Neurology, vol. 95, no. 19, pp. e2675-e2682 . https://doi.org/10.1212/WNL.0000000000010730
Neurology, 95(19), e2675-e2682. Lippincott Williams and Wilkins
Neurology, 95(19), e2675-e2682. Lippincott Williams and Wilkins
ObjectiveTo determine genotype–phenotype correlation in succinic semialdehyde dehydrogenase (SSADH) deficiency.MethodsALDH5A1 variants were studied with phenotype correlation in the SSADH natural history study. Assignment of gene variant pathogenic
Autor:
Julia Bassell, Siddharth Srivastava, Anna K. Prohl, Benoit Scherrer, Kush Kapur, Rajna Filip-Dhima, Elizabeth Berry-Kravis, Latha Soorya, Audrey Thurm, Craig M. Powell, Jonathan A. Bernstein, Joseph D. Buxbaum, Alexander Kolevzon, Simon K. Warfield, Mustafa Sahin, Joseph Buxbaum, Elizabeth Berry Kravis, Craig Powell, Simon Warfield, Kira Dies, Paige Siper, Ellen Hanson, Jennifer M. Phillips, Stormi P. White
Publikováno v:
Pediatr Neurol
Background This cohort study utilized diffusion tensor imaging tractography to compare the uncinate fasciculus and inferior longitudinal fasciculus in children with Phelan-McDermid syndrome with age-matched controls and investigated trends between au
Autor:
Jurriaan M. Peters, Kit Sing Au, Monisha Goyal, Nita A. Limdi, Jessica Krefting, Ellen Hanson, Sarah O'Kelley, E. Martina Bebin, Marian E. Williams, Mark Beasley, Hope Northrup, Anna W. Byars, Joyce Y. Wu, Gary Cutter, Darcy A. Krueger, Mustafa Sahin, Deborah A. Pearson
Publikováno v:
Epilepsia
Objective To determine if routine electroencephalography (EEG) in seizure‐naive infants with tuberous sclerosis complex (TSC) can predict epilepsy and subsequent neurocognitive outcomes. Methods Forty infants 7 months of age or younger and meeting
Autor:
Nicole M. Bing, Sarah O'Kelley, Anna W. Byars, Darcy A. Krueger, Wu Jy, Jamie K. Capal, Bridget Kent, Hope Northrup, Donna S. Murray, Mustafa Sahin, Deborah A. Pearson, Kissinger R, E. M. Bebin, Ellen Hanson, Marian E. Williams
Publikováno v:
American Psychologist. 74:356-367
The Tuberous Sclerosis Complex Autism Center of Excellence Network (TACERN) is a 6-site collaborative conducting longitudinal research on infants with tuberous sclerosis complex (TSC), focused on identifying early biomarkers for autism spectrum disor
Autor:
Benoit Scherrer, Ellen Hanson, Donna S. Murray, Mustafa Sahin, Sarah O'Kelley, Steven L. Roberds, Rajna Filip-Dhima, Shaun A. Hussain, Kira A. Dies, Nicole M. Bing, Stephanie Bruns, Darcy A. Krueger, E. Martina Bebin, Jurriaan M. Peters, Ernst W. Schmid, Deborah A. Pearson, Marian E. Williams, Monisha Goyal, Hope Northrup, Joyce Y. Wu, Gary Cutter, Bridget Kent
Publikováno v:
Epilepsy Research. 148:1-7
After initially successful treatment of infantile spasms, the long-term cumulative risk of relapse approaches 50%, and there is no established protocol to mitigate this risk. Although vigabatrin may be an effective means to prevent relapse, there is