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

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

卡罗林斯卡基因组医学中心关于罕见病基因组测序的十年报告及分阶段临床实施策略

Lindstrand, Anna; Lagerstedt-Robinson, Kristina; Jemt, Anders; Kvarnung, Malin; Ygberg, Sofia; Vonlanthen, Sofie; Oscarson, Mikael; Nilsson, Daniel; Lesko, Nicole; Mantero, Angelo Salazar; Anderlid, Britt-Marie; Arnell, Henrik; Arthur, Cecilia; Bajalica-Lagercrantz, Svetlana; Barbaro, Michela; Bergman, Peter; Björck, Erik; Picard, Oda Blomqvist; Bruhn, Helene; Carlsten, Jonas; Correia, Sandrina P; De Geer, Karl; Delgado Vega, Angelica M; Ehn, Emma; Eisfeldt, Jesper; Ek, Marlene; Elvers, Ingegerd; Engvall, Martin; Freyer, Christoph; Frisk, Sofia; Graff, Caroline; Grigelioniené, Giedré; Gustafsson, Peter; Hammarsjö, Anna; Helgadottir, Hafdis T; Hellström Pigg, Maritta; Henry, Olivia J; Hägglund, Moa; Iwarsson, Erik; Janvid, Vincent; Soller, Maria Johansson; Sundin, Leif; Kuchinskaya, Ekaterina; Kämpe, Anders; Leinfelt, Anna; Liedén, Agne; Lindelöf, Hillevi; Lyander, Anna; Malmgren, Helena; Mannila, Maria; Marits, Per; Naess, Karin; Neethiraj, Ramprasad; Nyren, Karl; Pappas, Christoforos; Paucar, Martin; Pekkola Pacheco, Nadja; Peña Perez, Lucia; Pettersson, Maria; Pruisscher, Peter; Rasi, Chiara; Renevey, Annick; Rössner, Sophia; Sahlin, Ellika; Stenund, Erik; Stödberg, Tommy; Sundin, Mikael; Svärd, Karl; Tesi, Bianca; Tham, Emma; Thonberg, Håkan; Töhönen, Virpi; Ueberschär, Malin; Wallander, Karin; Westenius, Eini; Winberg, Johanna; Winblad, Nerges; Wincent, Josephine; Winerdal, Malin; Wredenberg, Anna; Zetterlund, Anna; Zetterström, Rolf H; Öfverholm, Ingegerd; Nordgren, Ann; Stranneheim, Henrik; Wirta, Valtteri; Wedell, Anna

A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival

瑞典全国丙酮酸脱氢酶复合物缺乏症研究:流行病学、基因型-表型相关性及生存率

Savvidou, Antri; Sofou, Kalliopi; Thunström, Sofia; Ygberg, Sofia; Eklund, Erik A; Naess, Karin; Kollberg, Gittan; Darin, Niklas

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

儿童癫痫临床全基因组测序:733例患者的遗传和表型谱

Henry, Olivia J; Ygberg, Sofia; Barbaro, Michela; Lesko, Nicole; Karlsson, Leif; Peña-Pérez, Lucía; Båvner, Ann; Töhönen, Virpi; Lindstrand, Anna; Stödberg, Tommy; Wedell, Anna

Human In Vitro Models of Neuroenergetics and Neurometabolic Disturbances: Current Advances and Clinical Perspectives

神经能量学和神经代谢紊乱的人类体外模型:当前进展和临床展望

Rogal, Julia; Zamproni, Laura Nicoleti; Nikolakopoulou, Polyxeni; Ygberg, Sofia; Wedell, Anna; Wredenberg, Anna; Herland, Anna

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

导致原发性和继发性丙酮酸脱氢酶复合物缺乏症的新型同义突变和深内含子突变

Bruhn, Helene; Naess, Karin; Ygberg, Sofia; Peña-Pérez, Lucía; Lesko, Nicole; Wibom, Rolf; Freyer, Christoph; Stranneheim, Henrik; Wedell, Anna; Wredenberg, Anna

The Swedish COG6-CDG experience and a comprehensive literature review

瑞典 COG6-CDG 的经验和全面的文献综述

Xia, Zhi-Jie; Ng, Bobby G; Jennions, Elizabeth; Blomqvist, Maria; Sandqvist Wiklund, Anneli; Hedberg-Oldfors, Carola; Gonzalez, Carlos Rodriguez; Freeze, Hudson H; Ygberg, Sofia; Eklund, Erik A

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

PPFIBP1基因的双等位基因功能缺失变异会导致神经发育障碍,表现为小头畸形、癫痫和脑室周围钙化。

Rosenhahn, Erik; O'Brien, Thomas J; Zaki, Maha S; Sorge, Ina; Wieczorek, Dagmar; Rostasy, Kevin; Vitobello, Antonio; Nambot, Sophie; Alkuraya, Fowzan S; Hashem, Mais O; Alhashem, Amal; Tabarki, Brahim; Alamri, Abdullah S; Al Safar, Ayat H; Bubshait, Dalal K; Alahmady, Nada F; Gleeson, Joseph G; Abdel-Hamid, Mohamed S; Lesko, Nicole; Ygberg, Sofia; Correia, Sandrina P; Wredenberg, Anna; Alavi, Shahryar; Seyedhassani, Seyed M; Ebrahimi Nasab, Mahya; Hussien, Haytham; Omar, Tarek E I; Harzallah, Ines; Touraine, Renaud; Tajsharghi, Homa; Morsy, Heba; Houlden, Henry; Shahrooei, Mohammad; Ghavideldarestani, Maryam; Abdel-Salam, Ghada M H; Torella, Annalaura; Zanobio, Mariateresa; Terrone, Gaetano; Brunetti-Pierri, Nicola; Omrani, Abdolmajid; Hentschel, Julia; Lemke, Johannes R; Sticht, Heinrich; Abou Jamra, Rami; Brown, Andre E X; Maroofian, Reza; Platzer, Konrad

A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy

PDK1 错义变异与严重神经发育迟缓和癫痫有关

Raquel Vaz, Josephine Wincent, Najla Elfissi, Kristina Rosengren Forsblad, Maria Pettersson, Karin Naess, Anna Wedell, Anna Wredenberg, Anna Lindstrand, Sofia Ygberg

Age-related changes in the inflammatory responses to viral infections in the central nervous system during childhood

儿童期中枢神经系统对病毒感染的炎症反应随年龄的变化

Ygberg, Sofia; Fowler, Åsa; Wickström, Ronny

Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse

病例报告:吡哆醇依赖性癫痫导致呼吸窘迫继发循环衰竭的死亡病例

Aquilano, Giulia; Linnér, Agnes; Ygberg, Sofia; Stödberg, Tommy; Henckel, Ewa