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

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.

COX18 的双等位基因变异会导致线粒体疾病,主要表现为周围神经病变。

Armirola-Ricaurte Camila, Morant Laura, Adant Isabelle, Hamed Sherifa A, Pipis Menelaos, Efthymiou Stephanie, Amor-Barris Silvia, Atkinson Derek, Van de Vondel Liedewei, Tomic Aleksandra, Seneca Sara, de Vriendt Els, Zuchner Stephan, Ghesquiere Bart, Hanna Michael G, Houlden Henry, Lunn Michael P, Reilly Mary M, Milic Rasic Vedrana, Jordanova Albena

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13

PGM1和NDUFA13致病变异患者糖基化和氧化磷酸化联合缺陷的复杂代谢组学变化

Radenkovic, Silvia; Adant, Isabelle; Bird, Matthew J; Swinnen, Johannes V; Cassiman, David; Kozicz, Tamas; Gruenert, Sarah C; Ghesquière, Bart; Morava, Eva

Genetic counseling in veterinary medicine: towards an evidence-based definition for the small animal practice

兽医遗传咨询:迈向小动物实践的循证定义

Adant, Laura; Szymczak, Virginie; Bhatti, Sofie F M; Smets, Pascale; Saunders, Jimmy; Peelman, Luc; Broeckx, Bart J G

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy

COX18基因的双等位基因变异会导致线粒体疾病,主要表现为周围神经病变。

Armirola-Ricaurte, Camila; Morant, Laura; Adant, Isabelle; Hamed, Sherifa Ahmed; Pipis, Menelaos; Efthymiou, Stephanie; Amor-Barris, Silvia; Atkinson, Derek; Van de Vondel, Liedewei; Tomic, Aleksandra; de Vriendt, Els; Zuchner, Stephan; Ghesquiere, Bart; Hanna, Michael; Houlden, Henry; Lunn, Michael P; Reilly, Mary M; Rasic, Vedrana Milic; Jordanova, Albena

Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction

丙酮酸和尿苷可改善氧化磷酸化功能障碍的代谢特征。

Adant, Isabelle; Bird, Matthew; Decru, Bram; Windmolders, Petra; Wallays, Marie; de Witte, Peter; Rymen, Daisy; Witters, Peter; Vermeersch, Pieter; Cassiman, David; Ghesquière, Bart

Sequential or Simultaneous Injection of Preformed Fibrils and AAV Overexpression of Alpha-Synuclein Are Equipotent in Producing Relevant Pathology and Behavioral Deficits.

预先形成的纤维和 AAV 过表达 α-突触核蛋白的顺序或同时注射在产生相关病理和行为缺陷方面具有相同的效力

Negrini Matilde, Tomasello Giuseppe, Davidsson Marcus, Fenyi Alexis, Adant Cécile, Hauser Swantje, Espa Elena, Gubinelli Francesco, Manfredsson Fredric P, Melki Ronald, Heuer Andreas

Chemotherapy-Induced Upregulation of Somatostatin Receptor-2 Increases the Uptake and Efficacy of 177Lu-DOTA-Octreotate in Neuroendocrine Tumor Cells

化疗诱导的生长抑素受体 2 上调可增加神经内分泌肿瘤细胞对 177Lu-DOTA-奥曲肽的吸收和疗效

Rashmi G Shah, Marine A Merlin, Samuel Adant, Fayçal Zine-Eddine, Jean-Mathieu Beauregard, Girish M Shah

Potentiation of 177Lu-octreotate peptide receptor radionuclide therapy of human neuroendocrine tumor cells by PARP inhibitor

PARP抑制剂增强177Lu-奥曲肽受体核素对人神经内分泌肿瘤细胞的治疗作用

Nupur K Purohit, Rashmi G Shah, Samuel Adant, Michael Hoepfner, Girish M Shah, Jean-Mathieu Beauregard