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

De Novo TRIO Missense Variants Disrupt Ras-GEF Domains and Cause Congenital Ventriculomegaly and Hydrocephalus

从头发生的TRIO错义变异破坏Ras-GEF结构域,导致先天性脑室扩大和脑积水

Mehta, Neel H; Dennis, Evan; Allington, Garrett; Mekbib, Kedous Y; Hale, Andrew T; Davalan, William C; Duy, Phan Q; Zilla, Emmarose; Fan, Baojian; Kasper, Ekkehard M; Alper, Seth L; Haider, Shozeb; Kahle, Kristopher T

PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.

PTEN 突变会通过扰乱脑室周围神经祖细胞来损害脑脊液动力学和皮层网络

DeSpenza Tyrone Jr, Kiziltug Emre, Allington Garrett, Barson Daniel G, McGee Stephen, O'Connor David, Robert Stephanie M, Mekbib Kedous Y, Nanda Pranav, Greenberg Ana B W, Singh Amrita, Duy Phan Q, Mandino Francesca, Zhao Shujuan, Lynn Anna, Reeves Benjamin C, Marlier Arnaud, Getz Stephanie A, Nelson-Williams Carol, Shimelis Hermela, Walsh Lauren K, Zhang Junhui, Wang Wei, Prina Mackenzi L, OuYang Annaliese, Abdulkareem Asan F, Smith Hannah, Shohfi John, Mehta Neel H, Dennis Evan, Reduron Laetitia R, Hong Jennifer, Butler William, Carter Bob S, Deniz Engin, Lake Evelyn M R, Constable R Todd, Sahin Mustafa, Srivastava Siddharth, Winden Kellen, Hoffman Ellen J, Carlson Marina, Gunel Murat, Lifton Richard P, Alper Seth L, Jin Sheng Chih, Crair Michael C, Moreno-De-Luca Andres, Luikart Bryan W, Kahle Kristopher T

De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly

新生变异破坏了先天性脑室扩大症中 LDB1 调控的转录网络

Allington, Garrett; Mehta, Neel H; Dennis, Evan; Mekbib, Kedous Y; Reeves, Benjamin; Kiziltug, Emre; Chen, Shuang; Zhao, Shujuan; Duy, Phan Q; Saleh, Maha; Ang, Lee C; Fan, Baojian; Nelson-Williams, Carol; Moreno-de-Luca, Andrés; Haider, Shozeb; Lifton, Richard P; Alper, Seth L; McGee, Stephen; Jin, Sheng Chih; Kahle, Kristopher T

Selected laboratory-based biomarkers for assessing vitamin A deficiency in at-risk individuals

针对高危人群,筛选出一些基于实验室的维生素A缺乏生物标志物进行评估。

Gannon, Bryan M; Huey, Samantha L; Mehta, Neel H; Shrestha, Nidhi; Lopez-Perez, Lucero; Martinez, Ricardo X; Rogers, Lisa M; Garcia-Casal, Maria Nieves; Mehta, Saurabh

Precision nutrition-based interventions for the management of obesity in children and adolescents up to the age of 19 years

针对19岁以下儿童和青少年肥胖症的精准营养干预措施

Huey, Samantha L; Mehta, Neel H; Steinhouse, Ruth S; Jin, Yue; Kibbee, Matthew; Kuriyan, Rebecca; Finkelstein, Julia L; Mehta, Saurabh

Single-cell elderly blood-CSF atlas implicates peripherally influenced immune dysregulation in normal pressure hydrocephalus

单细胞老年人血脑脊液图谱揭示外周影响的免疫失调与正常压力脑积水有关

Duy, Phan Q; Kiziltug, Emre; Greenberg, Ana B W; Mehta, Neel H; Hao, Le T; Fortes, Carla; Mullany, Susan; Fan, Baojian; Manichaikul, Ani; Teich, Andrew F; Chan, Diane; Alper, Seth L; Hyman, Bradley T; Arnold, Steven E; McKhann, Guy M; Frosch, Matthew P; Kahle, Kristopher T

Current trends in the allocation of National Institute of Health funding of brain tumor research

美国国立卫生研究院脑肿瘤研究经费分配的当前趋势

Nawabi, Noah L A; Saway, Brian F; Jha, Rohan; Pereira, Matheus; Mehta, Neel H; Das, Arabinda; Zukas, Alicia; Lindhorst, Scott; Strickland, Ben A

Presenting characteristics and clinical outcomes of idiopathic versus neurofibromatosis type 2-associated spinal meningiomas: a retrospective institutional experience

特发性脊髓脑膜瘤与2型神经纤维瘤病相关性脊髓脑膜瘤的临床特征和结局:一项回顾性机构经验

Nawabi, Noah L A; Chalif, Joshua I; Renauld, Sophia; Mehta, Neel H; Jha, Rohan; Gerstl, Jakob V E; Chalif, Eric; Gupta, Saksham; Chi, John H

Somatic TEK Mutation Identified in a Patient with Calvarial Venous Malformations

在一名颅骨静脉畸形患者中发现体细胞TEK突变

Fan, Baojian; Dennis, Evan; Mehta, Neel H; Davalan, William; Fortes, Carla; Swamy, Aditi; Muñoz, William; Jaimes, Camilo; Hale, Andrew T; Kahle, Kristopher T

Clinical phenotypes among patients with familial forms of Chiari malformation type 1

家族性小脑扁桃体下疝畸形1型患者的临床表型

Mekbib, Kedous Y; Muñoz, William; Allington, Garrett; Zhao, Shujuan; Mehta, Neel H; Fortes, Carla; Shohfi, John P; Fan, Baojian; Nelson-Williams, Carol; DeSpenza, Tyrone; Butler, William E; Alper, Seth L; Jackson, Eric M; Kahle, Kristopher T