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

Acquired Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Associated With Sertraline in Sweden-A Nationwide Population-Based Study

瑞典一项基于全国人口的研究:舍曲林相关获得性多酰基辅酶A脱氢酶缺乏症

Sunebo, Sofie; Nilsson, Emil; Engvall, Martin; Hedberg-Oldfors, Carola; Shen, Yan; Nennesmo, Inger; Danielsson, Olof; Oldfors, Anders; Appelqvist, Hanna; Lindgren, Ulrika

The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder

ZFHX3 GGC 重复序列扩增是 4 型脊髓小脑性共济失调的根本原因,它具有共同的祖先。

Chen, Zhongbo; Alvarez Jerez, Pilar; Anderson, Claire; Paucar, Martin; Lee, Jasmaine; Nilsson, Daniel; Macpherson, Hannah; Scardamaglia, Annarita; Montgomery, Kylie; Hardy, John; Singleton, Andrew B; Tucci, Arianna; Mathews, Katherine D; Fu, Ying-Hui; Engvall, Martin; Laffita-Mesa, José; Nennesmo, Inger; Wedell, Anna; Ptáček, Louis J; Blauwendraat, Cornelis; Gustavsson, Emil K; Svenningsson, Per; Ryten, Mina; Houlden, Henry

Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023

2015-2023年瑞典新生儿干血斑筛查诊断流程中的下一代测序

Sörensen, Lene; Asin-Cayuela, Jorge; Barbaro, Michela; Bruhn, Helene; Engvall, Martin; Lesko, Nicole; Naess, Karin; Oscarson, Mikael; Shen, Yan; Ueberschär, Malin; Wredenberg, Anna; Sterky, Fredrik H; Wedell, Anna; Zetterström, Rolf H

SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis

SPNS1 变异会导致多器官疾病,并表明溶血磷脂转运对于 mTOR 调节的脂质稳态至关重要。

He, Menglan; Ding, Mei; Chocholouskova, Michaela; Chin, Cheen Fei; Engvall, Martin; Malmgren, Helena; Wagner, Matias; Lauffer, Marlen C; Heisinger, Jacob; Malicdan, May Christine V; Allamand, Valerie; Durbeej, Madeleine; Delgado Vega, Angelica; Sejersen, Thomas; Nordgren, Ann; Torta, Federico; Silver, David L

Functional Limitations and Exercise Intolerance in Patients With Post-COVID Condition: A Randomized Crossover Clinical Trial.

新冠后遗症患者的功能限制和运动不耐受:一项随机交叉临床试验

Tryfonos Andrea, Pourhamidi Kaveh, Jörnåker Gustav, Engvall Martin, Eriksson Lisa, Elhallos Sara, Asplund Nicole, Mandic Mirko, Sundblad Patrik, Sepic Atif, Rullman Eric, Hyllienmark Lars, Rundqvist Helene, Lundberg Tommy R, Gustafsson Thomas

Ganglion Cell Complex Thickness and Visual Function in Chronic Leber Hereditary Optic Neuropathy

慢性莱伯遗传性视神经病变中神经节细胞复合体厚度与视觉功能的关系

Hedström, Johan; Nilsson, Maria; Engvall, Martin; Williams, Pete A; Venkataraman, Abinaya Priya

Status epilepticus in POLG disease: a large multinational study

POLG 病中的癫痫持续状态:一项大型多国研究

Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Irenaeus; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Majamaa, Kari; Kärppä, Mikko; Ortigoza-Escobar, Juan Dario; Tangeraas, Trine; Berland, Siren; Harrison, Emma; Biggs, Heather; Horvath, Rita; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence A

Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier: Case Report and Review of the Literature

C9orf72 扩增携带者出现脑部受累的系统性毛细血管渗漏综合征:病例报告及文献综述

Sennfält, Stefan; Aspegren, Oskar; Engvall, Martin; Granberg, Tobias; Piehl, Fredrik

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3

与 XPNPEP3 基因中一种新的纯合变异相关的伴有听力丧失和肾痨的共济失调综合征

Ben-Shabat, Ilan; Kvarnung, Malin; Sperker, Wolfgang; Bruhn, Helene; Wredenberg, Anna; Wibom, Rolf; Nennesmo, Inger; Engvall, Martin; Paucar, Martin