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

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort

来自瑞典RFC1谱系障碍队列研究的新临床见解

Alm, Victor; Säll, Linda; Samuelsson, Kristin; Press, Rayomand; Arnardottir, Snjolaug; Lindstrand, Anna; Niemelä, Valter; Terinte, Lilia; Nordin, Frida; Svenningsson, Per; Nilsson, Daniel; Verrecchia, Luca; Paucar, Martin

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

具有全面变异调用的基因组测序可识别出大部分患有共济失调和/或神经肌肉疾病的个体中的结构变异和重复扩增

Marlene Ek, Daniel Nilsson, Martin Engvall, Helena Malmgren, Håkan Thonberg, Maria Pettersson, Britt-Marie Anderlid, Anna Hammarsjö, Hafdis T Helgadottir, Snjolaug Arnardottir, Karin Naess, Inger Nennesmo, Martin Paucar, Helgi Thor Hjartarson, Rayomand Press, Göran Solders, Thomas Sejersen, Anna Lin

Novel Cysteine-Sparing Hypomorphic NOTCH3 A1604T Mutation Observed in a Family With Migraine and White Matter Lesions

在患有偏头痛和白质病变的家族中发现了一种新型的保留半胱氨酸的低活性NOTCH3 A1604T突变

Arnardottir, Snjolaug; Del Gaudio, Francesca; Klironomos, Stefanos; Braune, Eike-Benjamin; Lombraña, Ariane Araujo; Oliveira, Daniel V; Jin, Shaobo; Karlström, Helena; Lendahl, Urban; Sjöstrand, Christina

The heme and radical scavenger α1-microglobulin (A1M) confers early protection of the immature brain following preterm intraventricular hemorrhage

血红素和自由基清除剂 α1-微球蛋白 (A1M) 在早产脑室内出血后为未成熟大脑提供早期保护

Olga Romantsik, Alex Adusei Agyemang, Snjolaug Sveinsdóttir, Sigurbjörg Rutardóttir, Bo Holmqvist, Magnus Cinthio, Mattias Mörgelin, Gulcin Gumus, Helena Karlsson, Stefan R Hansson, Bo Åkerström, David Ley, Magnus Gram

2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups

2017年欧洲抗风湿病联盟/美国风湿病学会成人和青少年特发性炎症性肌病及其主要亚组的分类标准

Lundberg, Ingrid E; Tjärnlund, Anna; Bottai, Matteo; Werth, Victoria P; Pilkington, Clarissa; Visser, Marianne de; Alfredsson, Lars; Amato, Anthony A; Barohn, Richard J; Liang, Matthew H; Singh, Jasvinder A; Aggarwal, Rohit; Arnardottir, Snjolaug; Chinoy, Hector; Cooper, Robert G; Dankó, Katalin; Dimachkie, Mazen M; Feldman, Brian M; Torre, Ignacio Garcia-De La; Gordon, Patrick; Hayashi, Taichi; Katz, James D; Kohsaka, Hitoshi; Lachenbruch, Peter A; Lang, Bianca A; Li, Yuhui; Oddis, Chester V; Olesinska, Marzena; Reed, Ann M; Rutkowska-Sak, Lidia; Sanner, Helga; Selva-O'Callaghan, Albert; Song, Yeong-Wook; Vencovsky, Jiri; Ytterberg, Steven R; Miller, Frederick W; Rider, Lisa G

2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Adult and Juvenile Idiopathic Inflammatory Myopathies and Their Major Subgroups

2017年欧洲抗风湿病联盟/美国风湿病学会成人和青少年特发性炎症性肌病及其主要亚组的分类标准

Lundberg, Ingrid E; Tjärnlund, Anna; Bottai, Matteo; Werth, Victoria P; Pilkington, Clarissa; de Visser, Marianne; Alfredsson, Lars; Amato, Anthony A; Barohn, Richard J; Liang, Matthew H; Singh, Jasvinder A; Aggarwal, Rohit; Arnardottir, Snjolaug; Chinoy, Hector; Cooper, Robert G; Dankó, Katalin; Dimachkie, Mazen M; Feldman, Brian M; Garcia-De La Torre, Ignacio; Gordon, Patrick; Hayashi, Taichi; Katz, James D; Kohsaka, Hitoshi; Lachenbruch, Peter A; Lang, Bianca A; Li, Yuhui; Oddis, Chester V; Olesinska, Marzena; Reed, Ann M; Rutkowska-Sak, Lidia; Sanner, Helga; Selva-O'Callaghan, Albert; Song, Yeong-Wook; Vencovsky, Jiri; Ytterberg, Steven R; Miller, Frederick W; Rider, Lisa G

EULAR/ACR classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups: a methodology report

EULAR/ACR成人和青少年特发性炎症性肌病及其主要亚组的分类标准:方法学报告

Bottai, Matteo; Tjärnlund, Anna; Santoni, Giola; Werth, Victoria P; Pilkington, Clarissa; de Visser, Marianne; Alfredsson, Lars; Amato, Anthony A; Barohn, Richard J; Liang, Matthew H; Singh, Jasvinder A; Aggarwal, Rohit; Arnardottir, Snjolaug; Chinoy, Hector; Cooper, Robert G; Danko, Katalin; Dimachkie, Mazen M; Feldman, Brian M; García-De La Torre, Ignacio; Gordon, Patrick; Hayashi, Taichi; Katz, James D; Kohsaka, Hitoshi; Lachenbruch, Peter A; Lang, Bianca A; Li, Yuhui; Oddis, Chester V; Olesinka, Marzena; Reed, Ann M; Rutkowska-Sak, Lidia; Sanner, Helga; Selva-O'Callaghan, Albert; Wook Song, Yeong; Vencovsky, Jiri; Ytterberg, Steven R; Miller, Frederick W; Rider, Lisa G; Lundberg, Ingrid E

Cerebellar Exposure to Cell-Free Hemoglobin Following Preterm Intraventricular Hemorrhage: Causal in Cerebellar Damage?

早产脑室内出血后小脑暴露于无细胞血红蛋白:是否导致小脑损伤?

Alex Adusei Agyemang, Kristbjörg Sveinsdóttir, Suvi Vallius, Snjolaug Sveinsdóttir, Matteo Bruschettini, Olga Romantsik, Ann Hellström, Lois E H Smith, Lennart Ohlsson, Bo Holmqvist, Magnus Gram, David Ley

High Presence of Extracellular Hemoglobin in the Periventricular White Matter Following Preterm Intraventricular Hemorrhage

早产脑室内出血后脑室周围白质中细胞外血红蛋白含量较高

David Ley, Olga Romantsik, Suvi Vallius, Kristbjörg Sveinsdóttir, Snjolaug Sveinsdóttir, Alex A Agyemang, Maria Baumgarten, Matthias Mörgelin, Nataliya Lutay, Matteo Bruschettini, Bo Holmqvist, Magnus Gram

Extracellular hemoglobin - mediator of inflammation and cell death in the choroid plexus following preterm intraventricular hemorrhage

细胞外血红蛋白-早产脑室内出血后脉络丛炎症和细胞死亡的介质

Magnus Gram, Snjolaug Sveinsdottir, Magnus Cinthio, Kristbjörg Sveinsdottir, Stefan R Hansson, Matthias Mörgelin, Bo Åkerström, David Ley