Zobrazeno 1 - 10
of 61
pro vyhledávání: '"James H Tonsgard"'
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:
Staci Martin, Elizabeth K. Schorry, James H. Tonsgard, Heather L. Thompson, Pamela L. Wolters, Christopher J. Funes, Andrea Baldwin, Cynthia M. Hingtgen, Barbara Franklin, Stephanie Reeve, Taryn Allen, Taylor F. Smith, Kimberley S. Koetsier, Ana-Maria Vranceanu, Vanessa L. Merker, Carolina Barnett
Publikováno v:
Neurology
ObjectiveTo review and recommend patient-reported outcome (PRO) measures assessing multidimensional domains of quality of life (QoL) to use as clinical endpoints in medical and psychosocial trials for children and adults with neurofibromatosis (NF) t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8ab0f25b7d57c1dabbd1583290477d2
https://doi.org/10.1212/wnl.0000000000012421
https://doi.org/10.1212/wnl.0000000000012421
Publikováno v:
Symptom-Based Approach to Pediatric Neurology ISBN: 9783031104930
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::47404c50453db1607ea43f13ed752e1f
https://doi.org/10.1007/978-3-031-10494-7_31
https://doi.org/10.1007/978-3-031-10494-7_31
Autor:
Matthias A. Karajannis, A Taylor, Diana Baralle, Rosalie E. Ferner, A Gomes, Dave Viskochil, J Toelen, Rianne Oostenbrink, Christopher L. Moertel, Laura Papi, Conxi Lázaro, H Wu, Michael D. Wilson, Shay Ben-Shachar, Pierre Wolkenstein, Sirkku Peltonen, Plotkin, P Joly, Dominique C. Pichard, Michael Fisher, Steinke-Lange, T Frébourg, P Ciavarelli, H Hanson, Mia MacCollin, I Blanco, D Bessis, Meena Upadhyaya, C Cassiman, Dusica Babovic-Vuksanovic, Riccardi, Juha Peltonen, James H. Tonsgard, B Poppe, Katharina Wimmer, M Larralde, P Pancza, A Heiberg, Bruce R. Korf, Mautner, D. G. R. Evans, Robert Listernick, Tena Rosser, S Barbarot, Eva Trevisson, D Stevenson, M Anten, Eduard Serra, Miriam J. Smith, Christopher J Hammond, Susan M Huson, Yemima Berman, Marco Giovannini, C Mallucci, Anat Stemmer-Rachamimov, G Tadini, Robert A. Avery, N Rezende, Nicole J. Ullrich, CO Hanemann, SM Stivaros, Hildegard Kehrer-Sawatzki, A Parry, D Kroshinsky, Maurizio Clementi, JT Jordan, A Varan, Joanne Ngeow, A Mueller, G Zadeh, Michel Kalamarides, D Halliday, M Link, Elizabeth K. Schorry, Roger J. Packer, Vanessa L. Merker, David H. Gutmann, Arthur S. Aylsworth, Karin Soares Gonçalves Cunha, V-F Mautner, Amanda L. Bergner, David A. Stevenson, Eric Legius, L Le, M Ruggieri, Fred G. Barker, Ludwine Messiaen, Jan M. Friedman, J. Blakeley, Kaleb Yohay, Katherine A. Rauen, LO Rodrigues
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 23(8), 1506-1513. Lippincott Williams & Wilkins
Genetics in Medicine, 23(8), 1506-1513. Lippincott Williams & Wilkins
PURPOSE: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). METHODS: We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45cd2826f627d5badf189e97ab322203
https://orca.cardiff.ac.uk/id/eprint/143733/1/s41436-021-01170-5.pdf
https://orca.cardiff.ac.uk/id/eprint/143733/1/s41436-021-01170-5.pdf
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6934ae11448805f85972c9e6c7f18f44
https://doi.org/10.1177/1087054719894384
https://doi.org/10.1177/1087054719894384
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be10430123fde04023ee196e4dda8d9e
https://doaj.org/article/213a2426d5c645e994f7b2496477dbb2
https://doaj.org/article/213a2426d5c645e994f7b2496477dbb2
Autor:
Chie Emoto, Nathan Robison, Brigitte C. Widemann, Brian Weiss, Stewart Goldman, Jeffrey C. Allen, James H. Tonsgard, Alexander A. Vinks, Nancy Ratner, Michael Fisher, Jaishri O. Blakeley, Bruce R. Korf, Pamela L. Wolters, Coretta Thomas Robinson, Lloyd J. Edwards, Eva Dombi, Elizabeth K. Schorry, Scott R. Plotkin, Tsuyoshi Fukuda, Gary Cutter, Roger J. Packer
Publikováno v:
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 39(7)
PURPOSE Patients with neurofibromatosis type 1 (NF1) frequently develop plexiform neurofibromas (PNs), which can cause significant morbidity. We performed a phase II trial of the MAPK/ERK kinase inhibitor, mirdametinib (PD-0325901), in patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::782b39baa93c2f345388ea33efabf554
https://pubmed.ncbi.nlm.nih.gov/33507822
https://pubmed.ncbi.nlm.nih.gov/33507822
Publikováno v:
Hankey's Clinical Neurology ISBN: 9780429299476
Hankey's Clinical Neurology
Hankey's Clinical Neurology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2db493f96046ca98999ccd9f8a29507f
https://doi.org/10.1201/9780429299476-9
https://doi.org/10.1201/9780429299476-9
Autor:
Nicole J. Ullrich, Elizabeth K. Schorry, Jeffrey C. Allen, Jaishri O. Blakeley, Eva Dombi, James H. Tonsgard, Alyssa Reddy, Coretta Thomas, Sabine Mueller, Stewart Goldman, Karin S. Walsh, Lloyd Edwards, Andrea M. Gross, Bruce R. Korf, Wade Clapp, Roger J. Packer, Michael D. Prados, Michael Fisher
Publikováno v:
Neuro-Oncology
BACKGROUND Plexiform neurofibromas (PNs) can cause significant morbidity. In this phase 2 study, we assessed imaging and functional outcomes to the MEK-inhibitor Binimetinib in pediatric patients with PNs. METHODS Children (age 1–17 years) with PN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2877624fa4661e09d0f91af7c2b53ab3
http://europepmc.org/articles/PMC7715338
http://europepmc.org/articles/PMC7715338
Autor:
Matthias A. Karajannis, Jian Campian, Jaishri O. Blakeley, Michael Fisher, Gary Cutter, Roger J. Packer, Coretta Thomas, Tena Rosser, D. Wade Clapp, Scott R. Plotkin, Bruce R. Korf, Nicole J. Ullrich, Jeffrey C. Allen, Alona Muzikansky, James H. Tonsgard, Dan G. Duda
PURPOSE Bevacizumab treatment at 7.5 mg/kg every 3 weeks results in improved hearing in approximately 35%-40% of patients with neurofibromatosis type 2 (NF2) and progressive vestibular schwannomas (VSs). However, the optimal dose is unknown. In this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91cb26c3d5b3d9662c99dc49e14b3af8
https://europepmc.org/articles/PMC7098833/
https://europepmc.org/articles/PMC7098833/