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

Protocol for an aged cohort study to create a single indicator that expresses the trajectory of intrinsic capacity over the years and its relation to functional abilities

一项针对老年人群的研究方案,旨在创建一个单一指标,以表达个体多年来内在能力的轨迹及其与功能能力的关系。

Simões, E J; Perracini, M; Mello, M A F; Cohrs, F M; Neumann, A P F M; Demarzo, M; Ramos, L R

Frontal Paraventricular Cysts: Refined Definitions and Outcomes

额叶室旁囊肿:更精确的定义和预后

Whitehead, Matthew T; Manteghinejad, Amirreza; Alves, César A P F; Simsek, Onur; Khalek, Nahla; Schwartz, Erin S

Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients

单发大规模线粒体缺失综合征:儿科患者的神经影像学表型和纵向进展

Alves, Cesar A P F; Rossi-Espagnet, Maria Camilla; Perez, Francisco; Manteghinejad, Amirreza; Peterson, James T; Ganetzky, Rebecca; Napolitano, Antonio; Grassi, Francesco; George-Sankoh, Ibrahim; Yildiz, Harun; Muraresku, Colleen; Falk, Marni J; Martinelli, Diego; Longo, Daniela; Vanderver, Adeline; Gandolfo, Carlo; Saneto, Russell P; Goldstein, Amy; Vossough, Arastoo

MELAS: Phenotype Classification into Classic-versus-Atypical Presentations

MELAS:表型分类为经典型与非典型型

Alves, C A P F; Zandifar, A; Peterson, J T; Tara, S Z; Ganetzky, R; Viaene, A N; Andronikou, S; Falk, M J; Vossough, A; Goldstein, A C

Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis

伴有脑干受累的丹迪-沃克表型:预后不同的两个亚组

Alves, C A P F; Sidpra, J; Manteghinejad, A; Sudhakar, S; Massey, F V; Aldinger, K A; Haldipur, P; Lucato, L T; Ferraciolli, S F; Teixeira, S R; Öztekin, Ö; Bhattacharya, D; Taranath, A; Prabhu, S P; Mirsky, D M; Andronikou, S; Millen, K J; Barkovich, A J; Boltshauser, E; Dobyns, W B; Barkovich, M J; Whitehead, M T; Mankad, K

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy

铁蛋白重链基因 FTH1 中的杂合无义变异导致神经铁蛋白病

Joseph T Shieh, Jesus A Tintos-Hernandez, Chaya N Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C Lee, Joanna J Phillips, César A P F Alves, Ivan J Dmochowski, Xilma R Ortiz

Temporomandibular joint patient specific implant as treatment for hemifacial microsomia

颞下颌关节患者特异性植入物治疗半侧颜面短小症

Pinto, Leonardo A P F; Lima, Bernardo C; Coutinho, Michelle A; Ramos, Viviane F

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy

铁蛋白重链基因 FTH1 中的杂合无义变异导致一种新型儿童神经铁蛋白病

Joseph T Shieh, Jesus A Tintos-Hernández, Chaya N Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C Lee, Joanna J Phillips, César A P F Alves, Ivan J Dmochowski, Xilma R Ortiz

Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

携带H3F3种系变异患者的脑部异常:除体细胞变异和脑肿瘤外,还存在新的影像学发现和神经系统症状

Alves, C A P F; Sherbini, O; D'Arco, F; Steel, D; Kurian, M A; Radio, F C; Ferrero, G B; Carli, D; Tartaglia, M; Balci, T B; Powell-Hamilton, N N; Schrier Vergano, S A; Reutter, H; Hoefele, J; Günthner, R; Roeder, E R; Littlejohn, R O; Lessel, D; Lüttgen, S; Kentros, C; Anyane-Yeboa, K; Catarino, C B; Mercimek-Andrews, S; Denecke, J; Lyons, M J; Klopstock, T; Bhoj, E J; Bryant, L; Vanderver, A

ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development

ACTA2相关性脑回畸形:一种未被充分认识的皮质发育畸形

Subramanian, S; Biswas, A; Alves, C A P F; Sudhakar, S V; Shekdar, K V; Krishnan, P; Shroff, M; Taranath, A; Arrigoni, F; Aldinger, K A; Leventer, R J; Dobyns, W B; Mankad, K