Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Tena, Rosser"'
Autor:
Kirsten Blanco, Melissa Gabriel, Ashley Mills, Christina Cook, Vandana Mehta, Shafali Jeste, Tena Rosser, Matthew Deardorff
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101461- (2024)
Externí odkaz:
https://doaj.org/article/ccb23f4180bc4274bf5392d7ff50957f
Autor:
Jonathan M. Payne, Stephen J. C. Hearps, Karin S. Walsh, Iris Paltin, Belinda Barton, Nicole J. Ullrich, Kristina M. Haebich, David Coghill, Gerard A. Gioia, Alan Cantor, Gary Cutter, James H. Tonsgard, David Viskochil, Celiane Rey‐Casserly, Elizabeth K. Schorry, Joseph D. Ackerson, Laura Klesse, Michael J. Fisher, David H. Gutmann, Tena Rosser, Roger J. Packer, Bruce Korf, Maria T. Acosta, Kathryn N. North, the NF Clinical Trials Consortium
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 12, Pp 2555-2565 (2019)
Abstract Objective Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disorders have increased expectations for targeted, mechanism‐based treatments. However, translation from preclinica
Externí odkaz:
https://doaj.org/article/213a2426d5c645e994f7b2496477dbb2
Autor:
Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans, Monique Anten, Arthur Aylsworth, Diana Baralle, Sebastien Barbarot, Fred Barker, Shay Ben-Shachar, Amanda Bergner, Didier Bessis, Ignacio Blanco, Catherine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Chris Hammond Helen Hanson Arvid Heiberg, Pascal Joly, Justin T. Jordan, Matthias Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Le, Michael Link, Robert Listernick, Conor Mallucci, Vanessa L. Merker, Christopher Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger Packer, Allyson Parry, Juha Peltonen, Dominique Pichard, Bruce Poppe, Nilton Rezende, Luiz Oswaldo Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke-Lange, Stavros Michael Stivaros, Amy Taylor, Jaan Toelen, James Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh
Publikováno v:
Genetics in Medicine, 24(9), 1967-1977. Lippincott Williams & Wilkins
PURPOSE: Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in gen
Autor:
Amira F.A. Ibrahim, Caroline A. Montojo, Kristen M. Haut, Katherine H. Karlsgodt, Laura Hansen, Eliza Congdon, Tena Rosser, Robert M. Bilder, Alcino J. Silva, Carrie E. Bearden
Publikováno v:
NeuroImage: Clinical, Vol 15, Iss , Pp 801-811 (2017)
Background: Neurofibromatosis Type 1 (NF1) is a genetic disorder that disrupts central nervous system development and neuronal function. Cognitively, NF1 is characterized by difficulties with executive control and visuospatial abilities. Little is kn
Externí odkaz:
https://doaj.org/article/f0b27a9934a54c7eab40ef2c613c779b
Publikováno v:
NeuroImage: Clinical, Vol 22, Iss , Pp - (2019)
Neurofibromatosis type 1 (NF1) is a common single gene disorder resulting in multi-organ involvement. In addition to physical manifestations such as characteristic pigmentary changes, nerve sheath tumors, and skeletal abnormalities, NF1 is also assoc
Externí odkaz:
https://doaj.org/article/81015b93f97748ee9c26292fe88f9a0d
Autor:
Melissa Baker, Mary Anne Toledo-Tamula, Claas Rohl, Stephanie Reda, Pamela L. Wolters, Vanessa L. Merker, Tena Rosser, Barbara Franklin, Beverly Oberlander, Stephanie Reeve, Ana-Maria Vranceanu, Staci Martin, Nour Al Ghriwati, Gregg Erickson, Dale Berg
Publikováno v:
American Journal of Medical Genetics. Part a
The coronavirus pandemic increased anxiety and stress and prevented access to health care worldwide; it is unclear how COVID‐19 affected adults with a multisystem genetic disorder such as neurofibromatosis (NF). An anonymous online survey was distr
Autor:
Mary Anne Toledo-Tamula, Pamela L. Wolters, Kristina K. Hardy, Jonathan M. Payne, Karin S. Walsh, Tena Rosser, Heather L. Thompson, Peter de Blank, Allison del Castillo, Bonita P. Klein-Tasman, Staci Martin, Maureen Hussey, Nicole J. Ullrich, Kristina M Haebich, Jennifer Janusz
Publikováno v:
Neurology
ObjectiveTo review parent-report social skills measures to identify and recommend consensus outcomes for use in clinical trials of social deficit in children and adolescents (ages 6–18 years) with neurofibromatosis type 1 (NF1).MethodsSearches were
The Use of MEK Inhibitors in Neurofibromatosis Type 1–Associated Tumors and Management of Toxicities
Autor:
Elizabeth K. Schorry, Justin T. Jordan, Scott R. Plotkin, Nicole J. Ullrich, Tena Rosser, Heather B. Radtke, David Viskochil, Laura J. Klesse, Kaleb Yohay, Pamela Knight
Publikováno v:
The Oncologist
Early‐phase clinical trials using oral inhibitors of MEK, the mitogen‐activated protein kinase kinase, have demonstrated benefit for patients with neurofibromatosis type 1 (NF1)‐associated tumors, particularly progressive low‐grade gliomas an
Autor:
David H. Gutmann, Elizabeth K. Schorry, Roger J. Packer, Michael Fisher, Jonathan M. Payne, Maria T. Acosta, Natalie A. Pride, Bruce R. Korf, Tena Rosser, Rachel MacKenzie, Kristina M Haebich, Laura J. Klesse, David Coghill, Mark A. Bellgrove, James H. Tonsgard, David Viskochil, Kathryn N. North, Nicole J. Ullrich, Stephen Hearps, Karin S. Walsh, Belinda Barton
Publikováno v:
Journal of Attention Disorders. 25:1177-1186
Objective: We examined the contribution of attention and executive cognitive processes to ADHD symptomatology in NF1, as well as the relationships between cognition and ADHD symptoms with functional outcomes. Methods: The study sample consisted of 14
Autor:
Joseph D. Ackerson, Celiane Rey-Casserly, David Coghill, Bruce R. Korf, Laura J. Klesse, Kathryn N. North, Maria T. Acosta, Karin S. Walsh, Stephen Hearps, Jonathan M. Payne, Michael Fisher, Tena Rosser, Gerard A. Gioia, Kristina M Haebich, Nicole J. Ullrich, David Viskochil, Iris Paltin, Alan B. Cantor, James H. Tonsgard, Elizabeth K. Schorry, Gary Cutter, Roger J. Packer, Belinda Barton, David H. Gutmann
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 12, Pp 2555-2565 (2019)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Objective Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disorders have increased expectations for targeted, mechanism‐based treatments. However, translation from preclinical models