日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Psychosocial functioning and determinants of the health-related quality of life in children with neurofibromatosis type 1 and cognitive impairments

1型神经纤维瘤病合并认知障碍儿童的心理社会功能及健康相关生活质量的决定因素

Barton, Belinda; Wolters, Pamela L; Walsh, Karin S; Ullrich, Nicole J; Rosser, Tena; Tonsgard, James; Viskochil, David; Schorry, Elizabeth; Klesse, Laura J; Fisher, Michael J; Gutmann, David H; Packer, Roger J; Korf, Bruce; Acosta, Maria T; North, Kathryn N; Payne, Jonathan M

Development of patient reported outcome measures assessing tumor pain intensity and tumor pain interference for individuals with neurofibromatosis type 1 and plexiform neurofibromas: qualitative findings

针对1型神经纤维瘤病和丛状神经纤维瘤患者,开发用于评估肿瘤疼痛强度和肿瘤疼痛干扰的患者报告结局指标:定性研究结果

Al Ghriwati, Nour; Struemph, Kari; Martin, Staci; Little, Paige; Baker, Melissa; Levine, Jason; MacKenzie, Cynthia; Tonsgard, James; Schorry, Elizabeth K; Walsh, Karin S; Wolters, Pamela L

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome

扩展1型神经纤维瘤病微缺失综合征的表型

Garzon, Jenny P; Patete, Andrea; Aschbacher-Smith, Lindsey; Qu'd, Dima; Kelly-Mancuso, Geraldine; Raski, Carolyn R; Weisman, Allison Goetsch; Hankins, Madison; Sawin, Michael; Kim, Katherine; Drackley, Andy; Zeid, Janice; Weaver, K Nicole; Hopkin, Robert J; Saal, Howard M; Charrow, Joel; Schorry, Elizabeth; Listernick, Robert; Simpson, Brittany N; Prada, Carlos E

Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report

GOSR2复合杂合变异与先天性肌营养不良和进行性肌阵挛性癫痫相关:病例报告

Arroyo, Monica S; Fuller, Christine; Schorry, Elizabeth K; Ulm, Elizabeth; Tian, Cuixia

Motor Function and Physiology in Youth With Neurofibromatosis Type 1

1型神经纤维瘤病青少年患者的运动功能和生理

Doherty, Alexander C; Huddleston, David A; Horn, Paul S; Ratner, Nancy; Simpson, Brittany N; Schorry, Elizabeth K; Aschbacher-Smith, Lindsey; Prada, Carlos E; Gilbert, Donald L

Consensus-Based Best Practice Guidelines for the Management of Spinal Deformity and Associated Tumors in Pediatric Neurofibromatosis Type 1: Screening and Surveillance, Surgical Intervention, and Medical Therapy

儿童神经纤维瘤病1型脊柱畸形及相关肿瘤管理的共识最佳实践指南:筛查和监测、手术干预和药物治疗

Xu, Amy L; Suresh, Krishna V; Gomez, Jaime A; Emans, John B; Larson, A Noelle; Cahill, Patrick J; Andras, Lindsay M; White, Klane K; Miller, Daniel J; Murphy, Joshua S; Groves, Mari L; Belzberg, Allan J; Hwang, Steven W; Rosser, Tena L; Staedtke, Verena; Ullrich, Nicole J; Sato, Aimee A; Blakeley, Jaishri O; Schorry, Elizabeth K; Gross, Andrea M; Redding, Gregory J; Sponseller, Paul D

MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus

MEK抑制剂治疗1型神经纤维瘤病:临床证据和共识

de Blank, Peter M K; Gross, Andrea M; Akshintala, Srivandana; Blakeley, Jaishri O; Bollag, Gideon; Cannon, Ashley; Dombi, Eva; Fangusaro, Jason; Gelb, Bruce D; Hargrave, Darren; Kim, AeRang; Klesse, Laura J; Loh, Mignon; Martin, Staci; Moertel, Christopher; Packer, Roger; Payne, Jonathan M; Rauen, Katherine A; Rios, Jonathan J; Robison, Nathan; Schorry, Elizabeth K; Shannon, Kevin; Stevenson, David A; Stieglitz, Elliot; Ullrich, Nicole J; Walsh, Karin S; Weiss, Brian D; Wolters, Pamela L; Yohay, Kaleb; Yohe, Marielle E; Widemann, Brigitte C; Fisher, Michael J

NF106: A Neurofibromatosis Clinical Trials Consortium Phase II Trial of the MEK Inhibitor Mirdametinib (PD-0325901) in Adolescents and Adults With NF1-Related Plexiform Neurofibromas

NF106:一项由神经纤维瘤病临床试验联盟开展的 II 期临床试验,旨在评估 MEK 抑制剂 Mirdametinib (PD-0325901) 对患有 NF1 相关丛状神经纤维瘤的青少年和成人的疗效。

Weiss, Brian D; Wolters, Pamela L; Plotkin, Scott R; Widemann, Brigitte C; Tonsgard, James H; Blakeley, Jaishri; Allen, Jeffrey C; Schorry, Elizabeth; Korf, Bruce; Robison, Nathan J; Goldman, Stewart; Vinks, Alexander A; Emoto, Chie; Fukuda, Tsuyoshi; Robinson, Coretta T; Cutter, Gary; Edwards, Lloyd; Dombi, Eva; Ratner, Nancy; Packer, Roger; Fisher, Michael J

Current Recommendations for Patient-Reported Outcome Measures Assessing Domains of Quality of Life in Neurofibromatosis Clinical Trials

神经纤维瘤病临床试验中评估生活质量各领域的患者报告结局指标的最新建议

Wolters, Pamela L; Vranceanu, Ana-Maria; Thompson, Heather L; Martin, Staci; Merker, Vanessa L; Baldwin, Andrea; Barnett, Carolina; Koetsier, Kimberley S; Hingtgen, Cynthia M; Funes, Christopher J; Tonsgard, James H; Schorry, Elizabeth K; Allen, Taryn; Smith, Taylor; Franklin, Barbara; Reeve, Stephanie

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

修订后的1型神经纤维瘤病和Legius综合征诊断标准:国际共识建议

Legius, Eric; Messiaen, Ludwine; Wolkenstein, Pierre; Pancza, Patrice; Avery, Robert A; Berman, Yemima; Blakeley, Jaishri; Babovic-Vuksanovic, Dusica; Cunha, Karin Soares; Ferner, Rosalie; Fisher, Michael J; Friedman, Jan M; Gutmann, David H; Kehrer-Sawatzki, Hildegard; Korf, Bruce R; Mautner, Victor-Felix; Peltonen, Sirkku; Rauen, Katherine A; Riccardi, Vincent; Schorry, Elizabeth; Stemmer-Rachamimov, Anat; Stevenson, David A; Tadini, Gianluca; Ullrich, Nicole J; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Huson, Susan M; Evans, D Gareth; Plotkin, Scott R