Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Darcy Krueger"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101129- (2024)
Externí odkaz:
https://doaj.org/article/06be5187846e4f2f844d465610be92b7
Autor:
Petrus J. de Vries, Loren Leclezio, Sugnet Gardner-Lubbe, Darcy Krueger, Mustafa Sahin, Steven Sparagana, Liesbeth De Waele, Anna Jansen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Tuberous Sclerosis Complex (TSC), a multi-system genetic disorder, is associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND). Individuals have apparently unique TAND profiles, challenging diagnosis, psych
Externí odkaz:
https://doaj.org/article/e8fba2272c7745f6abf4fdd10494af2e
Autor:
Iván Sánchez Fernández, Edward Yang, Paola Calvachi, Marta Amengual-Gual, Joyce Y Wu, Darcy Krueger, Hope Northrup, Martina E Bebin, Mustafa Sahin, Kun-Hsing Yu, Jurriaan M Peters, TACERN Study Group
Publikováno v:
PLoS ONE, Vol 15, Iss 4, p e0232376 (2020)
ObjectiveTo develop and test a deep learning algorithm to automatically detect cortical tubers in magnetic resonance imaging (MRI), to explore the utility of deep learning in rare disorders with limited data, and to generate an open-access deep learn
Externí odkaz:
https://doaj.org/article/c159ef921d9649e699fce8d92925fa2a
Autor:
Magdalena E Tyburczy, Kira A Dies, Jennifer Glass, Susana Camposano, Yvonne Chekaluk, Aaron R Thorner, Ling Lin, Darcy Krueger, David N Franz, Elizabeth A Thiele, Mustafa Sahin, David J Kwiatkowski
Publikováno v:
PLoS Genetics, Vol 11, Iss 11, p e1005637 (2015)
Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor gene syndrome due to germline mutations in either TSC1 or TSC2. 10-15% of TSC individuals have no mutation identified (NMI) after thorough conventional molecular diagnostic as
Externí odkaz:
https://doaj.org/article/a7cbe20f701349f5960bcf10a0cf23f9
Autor:
Izabela A Malinowska, Nancy Lee, Vidhya Kumar, Elizabeth A Thiele, David Neal Franz, Stephen Ashwal, Arthur Sagalowsky, Francis J Dimario, Drew Cutler, Darcy Krueger, Susana Camposano, Jan Paolini, Sandra L Dabora
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e56199 (2013)
We have previously shown that serum VEGF-D is elevated at baseline, correlates with kidney angiomyolipoma size at baseline and 12 months, and decreases with sirolimus treatment in adults with tuberous sclerosis complex (TSC). To further investigate t
Externí odkaz:
https://doaj.org/article/6f9b18cc65404eff969be1bf54098418
Autor:
Sandra L Dabora, David Neal Franz, Stephen Ashwal, Arthur Sagalowsky, Francis J DiMario, Daniel Miles, Drew Cutler, Darcy Krueger, Raul N Uppot, Rahmin Rabenou, Susana Camposano, Jan Paolini, Fiona Fennessy, Nancy Lee, Chelsey Woodrum, Judith Manola, Judy Garber, Elizabeth A Thiele
Publikováno v:
PLoS ONE, Vol 6, Iss 9, p e23379 (2011)
Tuberous sclerosis (TSC) related tumors are characterized by constitutively activated mTOR signaling due to mutations in TSC1 or TSC2.We completed a phase 2 multicenter trial to evaluate the efficacy and tolerability of the mTOR inhibitor, sirolimus,
Externí odkaz:
https://doaj.org/article/8505d388be174e3ab6d848e0c8a3c23d
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:
Peter E, Davis, Kush, Kapur, Rajna, Filip-Dhima, Sara K, Trowbridge, Elaina, Little, Andrew, Wilson, Andrew, Leuchter, Elizabeth M, Bebin, Darcy, Krueger, Hope, Northrup, Joyce Y, Wu, Mustafa, Sahin, Jurriaan M, Peters, B, Scherrer
Publikováno v:
Epilepsia
Objective To identify whether abnormal electroencephalography (EEG) connectivity is present before the onset of epileptic spasms (ES) in infants with tuberous sclerosis complex (TSC). Methods Scalp EEG recordings were collected prospectively in infan
Autor:
Ian A, Cook, Andrew C, Wilson, Jurriaan M, Peters, Monisha N, Goyal, E Martina, Bebin, Hope, Northrup, Darcy, Krueger, Andrew F, Leuchter, Mustafa, Sahin
Publikováno v:
Journal of autism and developmental disorders. 50(3)
Tuberous sclerosis complex (TSC) is a multisystem disorder with increased prevalence of autism spectrum disorders (ASDs). This project aimed to characterize the autism phenotype of TSC and identify biomarkers of risk for ASD. Because abnormalities of
Autor:
Mustafa Sahin, Elizabeth P. Henske, Brendan D. Manning, Kevin C. Ess, John J. Bissler, Eric Klann, David J. Kwiatkowski, Steven L. Roberds, Alcino J. Silva, Coryse St. Hillaire-Clarke, Lisa R. Young, Mark Zervas, Laura A. Mamounas, John Blenis, Thomas N. Darling, Vera P. Krymskaya, Joel Moss, Elahna Paul, Mario Pende, Minkyung H. Song, Andrew J. Wagner, Anna W. Byars, Diane C. Chugani, Gabriella D'Arcangelo, Petrus J. de Vries, Michael J. Gambello, Wendy B. Macklin, Charles A. Nelson, E. Martina Bebin, Peter B. Crino, David Franz, Brandy E. Fureman, Henrik Klitgaard, Darcy Krueger, Elizabeth Thiele, Howard L. Weiner, Michael Wong, Joyce Y. Wu, Karen Cichowski, Channing Der, Leon O. Murphy, Mark Nellist, Hope Northrup, Norbert Perrimon, Kari Luther Rosbeck, Reuben J. Shaw, Cara Long, Heather Rieff
Publikováno v:
Pediatric Neurology Briefs
On March 10 to March 12, 2015, the National Institute of Neurological Disorders and Stroke and the Tuberous Sclerosis Alliance sponsored a workshop in Bethesda, Maryland, to assess progress and new opportunities for research in tuberous sclerosis com