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

International Consensus on the Evaluation and Management of Hypothalamic Hamartomas: Results From a Modified Delphi Survey

关于下丘脑错构瘤评估和管理的国际共识:一项改良德尔菲调查的结果

Cohen, Nathan T; Li, Xiaotong; Berl, Madison M; Oluigbo, Chima O; Shirozu, Hiroshi; Berkovic, Samuel F; Zacharin, Margaret; Maixner, Wirginia; Schulze-Bonhage, Andreas; Klotz, Kerstin; Specchio, Nicola; Ferrand-Sorbets, Sarah; Bulteau, Christine; Arzimanoglou, Alexis A; Regis, Jean; Cross, J Helen; Tisdall, Martin M; Richardson, Hanna; Cukiert, Arthur; Cukiert, Cristine; Jacobs, Julia; Donner, Elizabeth J; Pearl, Phillip L; Kerrigan, John F; Wilfong, Angus A; Yuen, Kevin C J; Dlugos, Dennis J; Curry, Daniel; Ali, Irfan; Ragheb, John; Soeby, Lisa; Webster, Erica; Gaillard, William D

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

深层组织测序可提高局灶性皮质发育不良的基因诊断率。

Galea Breana, Reid Joshua, Gooley Samuel, Witkowski Tom, Lane Tara, Macdonald Sian, Green Timothy E, Ye Zimeng, Adikari Thiuni, Bulluss Kristian, Mullen Saul A, Bennett Caitlin A, Forster Brialie, Bradshaw Gabi, Lin Wendi, De Silva Wasanthi, Ramirez Rosita B, Khoshkhoo Sattar, Gupta Sachin, Krivanek Michael, Kothur Kavitha, Gill Deepak, Pope Kate, Gillies Greta, Coleman Matthew, Lee Wei-Shern, Stephenson Sarah M, Maixner Wirginia, Harvey A Simon, Macdonald-Laurs Emma, Howell Katherine B, D'Arcy Colleen, Lockhart Paul J, Leventer Richard J, Kalnins Renata M, Clark Jonathan, Bennett Mark F, Bahlo Melanie, Scheffer Ingrid E, Perucca Piero, Berkovic Samuel F, Hildebrand Michael S

Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2

一名患有结节性硬化症的儿童携带致病性RHEB体细胞变异,但TSC1或TSC2基因中未发现致病性变异。

Lee, Wei Shern; Macdonald-Laurs, Emma; Stephenson, Sarah; D'Arcy, Colleen; Maixner, Wirginia; Harvey, A Simon; Lockhart, Paul J; Leventer, Richard J

Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia

基底神经节发育不良和mTOR病变:局灶性皮质发育不良术后癫痫发作的潜在原因

Lee, Wei Shern; Macdonald-Laurs, Emma; Stephenson, Sarah E M; D'Arcy, Colleen; MacGregor, Duncan; Leventer, Richard J; Maixner, Wirginia; Harvey, A Simon; Lockhart, Paul J

Karawun: a software package for assisting evaluation of advances in multimodal imaging for neurosurgical planning and intraoperative neuronavigation

Karawun:一款用于辅助评估神经外科手术规划和术中神经导航多模态成像技术进展的软件包

Beare, Richard; Alexander, Bonnie; Warren, Aaron; Kean, Michael; Seal, Marc; Wray, Alison; Maixner, Wirginia; Yang, Joseph Yuan-Mou

Assessment of intraoperative diffusion EPI distortion and its impact on estimation of supratentorial white matter tract positions in pediatric epilepsy surgery

评估术中扩散EPI畸变及其对小儿癫痫手术中幕上白质束位置估计的影响

Yang, Joseph Yuan-Mou; Chen, Jian; Alexander, Bonnie; Schilling, Kurt; Kean, Michael; Wray, Alison; Seal, Marc; Maixner, Wirginia; Beare, Richard

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

脑脊液液体活检用于检测脑部体细胞嵌合现象

Ye, Zimeng; Chatterton, Zac; Pflueger, Jahnvi; Damiano, John A; McQuillan, Lara; Harvey, Anthony Simon; Malone, Stephen; Do, Hongdo; Maixner, Wirginia; Schneider, Amy; Nolan, Bernadette; Wood, Martin; Lee, Wei Shern; Gillies, Greta; Pope, Kate; Wilson, Michael; Lockhart, Paul J; Dobrovic, Alexander; Scheffer, Ingrid E; Bahlo, Melanie; Leventer, Richard J; Lister, Ryan; Berkovic, Samuel F; Hildebrand, Michael S

Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery

本研究旨在探讨沃索利肽在有颈髓减压手术风险的软骨发育不全婴幼儿中的安全性,并阐述一项随机、对照、开放标签临床试验(含开放标签扩展试验)的理论依据、设计和方法。

Savarirayan, Ravi; Irving, Melita; Maixner, Wirginia; Thompson, Dominic; Offiah, Amaka C; Connolly, Daniel Ja; Raghavan, Ashok; Powell, James; Kronhardt, Marcin; Jeha, George; Ghani, Sajda; Fisheleva, Elena; Day, Jonathan Rs

Optic Radiation Tractography in Pediatric Brain Surgery Applications: A Reliability and Agreement Assessment of the Tractography Method

视辐射束成像技术在小儿脑外科手术中的应用:束成像方法的可靠性和一致性评估

Yang, Joseph Yuan-Mou; Beare, Richard; Wu, Michelle Hao; Barton, Sarah M; Malpas, Charles B; Yeh, Chun-Hung; Harvey, A Simon; Anderson, Vicki; Maixner, Wirginia J; Seal, Marc

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome

Sturge-Weber综合征不典型表现为体细胞GNAQ突变。

Hildebrand, Michael S; Harvey, A Simon; Malone, Stephen; Damiano, John A; Do, Hongdo; Ye, Zimeng; McQuillan, Lara; Maixner, Wirginia; Kalnins, Renate; Nolan, Bernadette; Wood, Martin; Ozturk, Ezgi; Jones, Nigel C; Gillies, Greta; Pope, Kate; Lockhart, Paul J; Dobrovic, Alexander; Leventer, Richard J; Scheffer, Ingrid E; Berkovic, Samuel F