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

Spinal Cord Leptomeningeal Enhancement as a Marker of Extensive Spinal Cord Involvement in Children With MOGAD

脊髓软脑膜强化是MOGAD患儿广泛脊髓受累的标志

Bartiromo, Serenella; Alves, Cesar; O'Mahony, Julia; Yeh, E Ann; Marrie, Ruth Ann; Narayanan, Sridar; Waters, Patrick J; Gajofatto, Alberto; Bar-Or, Amit; Banwell, Brenda L; Fadda, Giulia

The succinate prodrug NV354 prevents brain lesions and late-stage motor dysfunction in mitochondrial complex I deficiency.

琥珀酸前药 NV354 可预防线粒体复合物 I 缺乏症引起的脑损伤和晚期运动功能障碍。

McManus Meagan J, Zhu Yi, Alves Cesar, Kohli Neha, Prada-Dacasa Patricia, Sanchez-Benito Laura, Sanz Elisenda, Yee Irene, Robinson Lozen, Sheldon Malkah, McHugh Walter J, Ranganathan Abhay, Meng Jennie, Duncan Nina, Grönberg Alvar, Wallace Douglas C, Piel Sarah, Karlsson Michael, Moss Steven J, Webster Lee, Hansson Magnus J, Elmér Eskil, Ehinger Johannes K, Quintana Albert, Kilbaugh Todd J

An Emerging Pediatric CNS Tumor: Imaging Evaluation of H3K27M and BRAF V600E Comutated Midline Tumors

一种新出现的儿童中枢神经系统肿瘤:H3K27M 和 BRAF V600E 共突变中线肿瘤的影像学评估

Rameh, Vanessa; Aker, Loai; Vajapeyam, Sridhar; Ziaei, Alireza; Yeo, Kee Kiat; Alves, Cesar; Baird, Lissa C; Fehnel, Katie P; Wright, Karen; Chi, Susan; Lidov, Hart G; Alexandrescu, Sanda; Poussaint, Tina Y

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

Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency

琥珀酸脱氢酶缺乏症患者的癫痫表型和脑电图表现为节律性高振幅δ波伴叠加尖峰(RHADS)

Bowen, Aaron B; Nwanze, Chiadika; Alves, Cesar; Rodan, Lance; Pinto, Anna Lecticia; Walker, Melissa A; Anselm, Irina; Pearl, Phillip L

MAPK signaling and angiopoietin-2 contribute to endothelial permeability in capillary malformations

MAPK信号通路和血管生成素-2促进毛细血管畸形中的内皮通透性

Nasim, Sana; Baig, Mariam; Wylie-Sears, Jill; Vivero, Matthew P; Smits, Patrick; Holm, Annegret; Marrs, Leanna; Cheng, Yu Sheng; Alves, Cesar; Pinto, Anna; Greene, Arin K; Bischoff, Joyce

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements

GOT2 缺乏症的全面基因型、表型和生化特征分析:一种伴有癫痫和异常运动的进行性神经发育障碍

German, Hannah M; Zaki, Maha S; Usmani, Muhammad A; Karagoz, Irem; Efthymiou, Stephanie; Abdel-Hamid, Mohamed S; Arabiyat, Haya Abdelhafez; Ghaffar, Amama; Shahzad, Mohsin; van Bokhoven, Hans; Ahmed, Zubair M; Yaghini, Omid; Hosseini, Neda; Majidinezhad, Maede; Alavi, Shahryar; Bosma, Marjolein; Broeks, Melissa H; Türkdoğan, Dilşad; Suri, Mohnish; Laura de Godoy, Laiz; Verhoeven-Duif, Nanda M; Riazuddin, Sheikh; Gleeson, Joseph G; Alves, Cesar; Jans, Judith J M; Riazuddin, Saima; Houlden, Henry; Maroofian, Reza

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.

ELFN1 缺陷:一种伴有癫痫的神经发育障碍的机制基础和表型谱

Dore Rhys, Chang Chu-Ting, Declève Amber, Brunori Gloria, Ludlam W Grant, Huang Alden, Movahedinia Mojtaba, Damseh Nadirah S, Anwar Ijaz, Vahidi Mehrjardi Mohammad Yahya, Ny Annelii, Khorrami Mehdi, Kheirollahi Majid, Frederiksen Helen, Eghbal Fatemeh, Mirjalili Mohammad Reza, Dehghani Mohammadreza, Karimiani Ehsan Ghayoor, Oreshkov Sergey, Alves Cesar, Striano Pasquale, Suri Mohnish, Martinez-Agosto Julian, Ansar Muhammad, Zahid Muhammad, Akram Samra, Ansar Muhammad, Nelson Stanley F, Antonarakis Stylianos E, Houlden Henry, Copmans Daniëlle, Martemyanov Kirill A, Maroofian Reza

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism

双等位基因MYMX变异会导致一种综合征性先天性肌病,其特征为明显的面瘫、生长受限和畸形。

Rahman, Fatima; Marsili, Luisa; Pasquetti, Domizia; Rad, Aboulfazl; Nadeem Anjum, Muhammad; Oprea, Gabriela; Cheema, Huma Arshad; Vona, Barbara; Augusto Alves, Cesar; Houlden, Henry; Maqbool, Shazia; Efthymiou, Stephanie; Smol, Thomas; Maroofian, Reza

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