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

Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction

碳酸酐酶VA缺乏症的神经影像学表现:一系列病例揭示了这种潜在可逆性线粒体功能障碍的诊断和预后模式

Fragoso, Diego Cardoso; Al-Ajmi, Eiman; Cardenas, Agustin M; Quijada-Fraile, Pilar; Biswas, Asthik; Sudhakar, Sniya; D'Arco, Felice; Mankad, Kshitij; Al-Thihli, Khalid; Bodamer, Olaf; O'Donnell-Luria, Anne; Yang, Edward; Rodan, Lance; Al-Murshedi, Fathiya; Alves, Cesar Augusto P F

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

GTF3C5(RNA 聚合酶 III 介导的转录调节剂)的双等位基因变异可导致多系统发育障碍

Aiko Iwata-Otsubo, Cara M Skraban, Atsunori Yoshimura, Toyonori Sakata, Cesar Augusto P Alves, Sarah K Fiordaliso, Yukiko Kuroda, Jaime Vengoechea, Angela Grochowsky, Paige Ernste, Lauren Lulis, Addie Nesbitt, Ahmad Abou Tayoun, Christopher Gray, Meghan C Towne, Kelly Radtke, Elizabeth A Normand, Li

Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases

EEF2相关神经发育障碍临床表现及变异谱的扩展:新增两例病例报告

Guo, Rose; Rippert, Alyssa L; Cook, Edward B; Alves, Cesar Augusto P; Bird, Lynne M; Izumi, Kosuke

Teaching NeuroImage: Selectively Bright Inferior Cerebellum in Christianson Syndrome

神经影像教学:克里斯蒂安森综合征中选择性亮起的下小脑

Alves, Cesar Augusto P F; Clifford, Simon M; McKeown Ruggiero, Sarah; Helbig, Ingo; Chadehumbe, Madeline; Shekdar, Karuna

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

苹果酸脱氢酶 2 缺乏症是儿童癫痫性脑病的一个新兴病因,具有可识别的生化特征

Jessica R C Priestley, Lisa M Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P F Alves, Ian M Campbell, Sanmati R Cuddapah, Nicole M Engelhardt, Marina Eskandar, Paloma C Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M Sriniva

Welcome to the ASPNR

欢迎来到ASPNR

Geraldo, Ana Filipa; Alves, Cesar Augusto P F; Luis, Aysha; Tortora, Domenico; Guimarães, Joana; Abreu, Daisy; Reimão, Sofia; Pavanello, Marco; de Marco, Patrizia; Scala, Marcello; Capra, Valeria; Vaz, Rui; Rossi, Andrea; Schwartz, Erin Simon; Mankad, Kshitij; Severino, Mariasavina; Huckman, Michael S