Zobrazeno 1 - 10
of 91
pro vyhledávání: '"E. Martina Bebin"'
Publikováno v:
Epilepsia Open, Vol 8, Iss 4, Pp 1405-1412 (2023)
Abstract Objective The aim of this study was to assess potential drug–drug interactions between highly purified cannabidiol (CBD) and anti‐seizure medications (ASMs). Methods Our group previously reported that in a sample of adults and children r
Externí odkaz:
https://doaj.org/article/da9f296ceddc4a11be3ebf4090ffd23a
Autor:
Anna K. Prohl, Benoit Scherrer, Xavier Tomas-Fernandez, Peter E. Davis, Rajna Filip-Dhima, Sanjay P. Prabhu, Jurriaan M. Peters, E. Martina Bebin, Darcy A. Krueger, Hope Northrup, Joyce Y. Wu, Mustafa Sahin, Simon K. Warfield, on behalf of the TACERN Study Group
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-16 (2019)
Abstract Background Autism spectrum disorder (ASD) is prevalent in tuberous sclerosis complex (TSC), occurring in approximately 50% of patients, and is hypothesized to be caused by disruption of neural circuits early in life. Tubers, or benign hamart
Externí odkaz:
https://doaj.org/article/6eb2a9d3dc9d402682caa0776bb9eb4a
Autor:
Susan M. Hiatt, James M.J. Lawlor, Lori H. Handley, Ryne C. Ramaker, Brianne B. Rogers, E. Christopher Partridge, Lori Beth Boston, Melissa Williams, Christopher B. Plott, Jerry Jenkins, David E. Gray, James M. Holt, Kevin M. Bowling, E. Martina Bebin, Jane Grimwood, Jeremy Schmutz, Gregory M. Cooper
Publikováno v:
HGG Advances, Vol 2, Iss 2, Pp 100023- (2021)
Summary: Exome and genome sequencing have proven to be effective tools for the diagnosis of neurodevelopmental disorders (NDDs), but large fractions of NDDs cannot be attributed to currently detectable genetic variation. This is likely, at least in p
Externí odkaz:
https://doaj.org/article/9e89b02fe99e4ca599239301f8118f70
Autor:
Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral, Candice R. Finnila, Susan M. Hiatt, Krysta L. Engel, J. Nicholas Cochran, Kyle B. Brothers, Kelly M. East, David E. Gray, Whitley V. Kelley, Neil E. Lamb, Edward J. Lose, Carla A. Rich, Shirley Simmons, Jana S. Whittle, Benjamin T. Weaver, Amy S. Nesmith, Richard M. Myers, Gregory S. Barsh, E. Martina Bebin, Gregory M. Cooper
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)
Abstract Background Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios. Methods W
Externí odkaz:
https://doaj.org/article/895f744bb3324791b83b71e276793d82
Autor:
Anna K. Prohl, Benoit Scherrer, Xavier Tomas-Fernandez, Rajna Filip-Dhima, Kush Kapur, Clemente Velasco-Annis, Sean Clancy, Erin Carmody, Meghan Dean, Molly Valle, Sanjay P. Prabhu, Jurriaan M. Peters, E. Martina Bebin, Darcy A. Krueger, Hope Northrup, Joyce Y. Wu, Mustafa Sahin, Simon K. Warfield
Publikováno v:
Frontiers in Integrative Neuroscience, Vol 13 (2019)
BackgroundMulti-site MRI studies are often necessary for recruiting sufficiently sized samples when studying rare conditions. However, they require pooling data from multiple scanners into a single data set, and therefore it is critical to evaluate t
Externí odkaz:
https://doaj.org/article/40d579c4e7e44f8885c24b7540f6f0c2
Autor:
Alexis Levine, Peter Davis, Bo Zhang, Jurriaan Peters, Rajna Filip-Dhima, Simon K. Warfield, Anna Prohl, Jamie Capal, Darcy Krueger, E. Martina Bebin, Hope Northrup, Joyce Y. Wu, Mustafa Sahin
Publikováno v:
Pediatric Neurology. 144:26-32
Autor:
Alexander L, Cohen, Mallory R, Kroeck, Juliana, Wall, Peter, McManus, Arina, Ovchinnikova, Mustafa, Sahin, Darcy A, Krueger, E Martina, Bebin, Hope, Northrup, Joyce Y, Wu, Simon K, Warfield, Jurriaan M, Peters, Michael D, Fox
Publikováno v:
Annals of Neurology. 93:577-590
Tuberous sclerosis complex (TSC) is associated with focal brain "tubers" and a high incidence of autism spectrum disorder (ASD). The location of brain tubers associated with autism may provide insight into the neuroanatomical substrate of ASD symptom
Autor:
Maaike, Nijman, Edward, Yang, Camilo, Jaimes, Anna K, Prohl, Mustafa, Sahin, Darcy A, Krueger, Joyce Y, Wu, Hope, Northrup, Scellig S D, Stone, Joseph R, Madsen, Aria, Fallah, Jeffrey P, Blount, Howard L, Weiner, Leslie, Grayson, E Martina, Bebin, Brenda E, Porter, Simon K, Warfield, Sanjay P, Prabhu, Jurriaan M, Peters
Publikováno v:
Journal of Neuroimaging. 32:991-1000
The success of epilepsy surgery in children with tuberous sclerosis complex (TSC) hinges on identification of the epileptogenic zone (EZ). We studied structural MRI markers of epileptogenic lesions in young children with TSC.We included 26 children w
Autor:
Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans, Dick Schijven, Christoffer Nellaker, Hanka Venselaar, Galuh D.N. Astuti, Tahsin Stefan Barakat, E. Martina Bebin, Stefanie Beck-Wödl, Gea Beunders, Natasha J. Brown, Theresa Brunet, Han G. Brunner, Philippe M. Campeau, Goran Čuturilo, Christian Gilissen, Tobias B. Haack, Irina Hüning, Ralf A. Husain, Benjamin Kamien, Sze Chern Lim, Luca Lovrecic, Janine Magg, Ales Maver, Valancy Miranda, Danielle C. Monteil, Charlotte W. Ockeloen, Lynn S. Pais, Vasilica Plaiasu, Laura Raiti, Christopher Richmond, Angelika Rieß, Eva M.C. Schwaibold, Marleen E.H. Simon, Stephanie Spranger, Tiong Yang Tan, Michelle L. Thompson, Bert B.A. de Vries, Ella J. Wilkins, Marjolein H. Willemsen, Clyde Francks, Lisenka E.L.M. Vissers, Simon E. Fisher, Tjitske Kleefstra
Publikováno v:
Genetics in Medicine, 24(6), 1283-1296. Lippincott Williams & Wilkins
Genetics in Medicine, 24(6), 1283-1296. Nature Publishing Group
Genetics in Medicine, 24, 1283-1296
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicine
Genetics in Medicine, 24(6), 1283-1296. Nature Publishing Group
Genetics in Medicine, 24, 1283-1296
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicine
PURPOSE: Common diagnostic next-generation sequencing strategies are not optimized to identify inherited variants in genes associated with dominant neurodevelopmental disorders as causal when the transmitting parent is clinically unaffected, leaving
Autor:
Robert J. Flamini, Anne M. Comi, E. Martina Bebin, Michael G. Chez, Gary Clark, Orrin Devinsky, Shaun A. Hussain, Paul D. Lyons, Anup D. Patel, Jillian L. Rosengard, Farhad Sahebkar, Eric Segal, Laurie Seltzer, Jerzy P. Szaflarski, Arie Weinstock
Publikováno v:
Epilepsia.