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

Convolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complex

卷积神经网络用于结节性硬化症中结节的自动分割和结节负荷量化

Sánchez Fernández, Iván; Soldatelli, Matheus D; Miller, Gillian N; Gout, Catharina F; Broekhuizen, Ellen C; den Hertog, Iris C J; Pijs, Daan A; Apostolopoulos, Errol; Kaur, Prabhjot; Ouaalam, Abdelhakim; Bebin, Martina E; Northrup, Hope; Krueger, Darcy A; Wu, Joyce Y; Cohen, Alexander L; Sahin, Mustafa; Karimi, Davood; Warfield, Simon K; Peters, Jurriaan M

Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in patients with tuberous sclerosis complex

累积癫痫发作负担可预测结节性硬化症患者36个月时的神经发育结果。

Ihnen, S Katie Z; Alperin, Samuel; Capal, Jamie K; Cohen, Alexander L; Peters, Jurriaan M; Bebin, E Martina; Northrup, Hope A; Sahin, Mustafa; Krueger, Darcy A

Neurodevelopmental Outcomes From the PREVeNT Trial

PREVeNT试验的神经发育结果

O'Kelley, Sarah E; Capal, Jamie K; McPherson, Tarrant O; Patrick, Kristina E; Pearson, Deborah A; Davis, Peter E; Currans, Kristn; Byars, Anna W; Porter, Brenda E; Sahin, Mustafa; Taub, Katherine S; Rajaraman, Rajsekar; Randle, Stephanie; McClintock, William M; Koenig, Mary Kay; Frost, Michael D; Werner, Klaus; Nolan, Danielle A; Wong, Michael; Krefting, Jessica L; Cutter, Gary R; Krueger, Darcy A; Bebin, E Martina

Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change

哪个分数代表什么?将标准化认知测试表现应用于变化评估

Farmer, Cristan; Thurm, Audrey; Das, Tanvi; Bebin, E Martina; Bernstein, Jonathan A; Berry-Kravis, Elizabeth; Buxbaum, Joseph D; Eng, Charis; Frazier, Thomas; Hardan, Antonio Y; Kolevzon, Alexander; Krueger, Darcy A; Martinez-Agosto, Julian A; Northrup, Hope; Powell, Craig M; Valluripalli Soorya, Latha; Wu, Joyce Y; Sahin, Mustafa

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders

长读长基因组测序和变异重分析提高了神经发育障碍的诊断率

Susan M Hiatt ,James M J Lawlor ,Lori H Handley ,Donald R Latner ,Zachary T Bonnstetter ,Candice R Finnila ,Michelle L Thompson ,Lori Beth Boston ,Melissa Williams ,Ivan Rodriguez Nunez ,Jerry Jenkins ,Whitley V Kelley ,E Martina Bebin ,Michael A Lopez ,Anna C E Hurst ,Bruce R Korf ,Jeremy Schmutz ,Jane Grimwood ,Gregory M Cooper

Evaluation of the complexation behaviour among functionalized diphenyl viologens and cucurbit[7] and [8]urils

功能化二苯基紫精与葫芦脲[7]和[8]的络合行为评价

Ambrose, Bebin; Sathyaraj, Gopal; Kathiresan, Murugavel

Long-term efficacy and safety of cannabidiol in patients with tuberous sclerosis complex: 3-year results from the cannabidiol expanded access program

大麻二酚治疗结节性硬化症患者的长期疗效和安全性:大麻二酚扩大使用计划的3年结果

Weinstock, Arie; Bebin, E Martina; Checketts, Daniel; Clark, Gary D; Szaflarski, Jerzy P; Seltzer, Laurie E; Thiele, Elizabeth A; Sahebkar, Farhad

Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial

结节性硬化症患者的耐药性癫痫与TSC2基因型相关:来自使用维加特林预防癫痫(PREVeNT)试验的更多发现

Farach, Laura S; Richard, Melissa A; Wulsin, Aynara C; Bebin, Elizabeth M; Krueger, Darcy A; Sahin, Mustafa; Porter, Brenda E; McPherson, Tarrant O; Peters, Jurriaan M; O'Kelley, Sarah; Taub, Katherine S; Rajaraman, Rajsekar; Randle, Stephanie C; McClintock, William M; Koenig, Mary Kay; Frost, Michael D; Werner, Klaus; Nolan, Danielle A; Wong, Michael; Cutter, Gary; Northrup, Hope; Au, Kit Sing

Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex

普通人群中常见的癫痫变异型与结节性硬化症患者的癫痫无关。

Richard, Melissa A; Lupo, Philip J; Ehli, Erik A; Sahin, Mustafa; Krueger, Darcy A; Wu, Joyce Y; Bebin, Elizabeth M; Au, Kit Sing; Northrup, Hope; Farach, Laura S

Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures

结节性硬化症和自闭症谱系障碍早期白质发育异常:弥散张量成像测量的纵向分析

Srivastava, Siddharth; Yang, Fanghan; Prohl, Anna K; Davis, Peter E; Capal, Jamie K; Filip-Dhima, Rajna; Bebin, E Martina; Krueger, Darcy A; Northrup, Hope; Wu, Joyce Y; Warfield, Simon K; Sahin, Mustafa; Zhang, Bo