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

The novel ITPR1 p.Phe2566Ser variant impairs IP(3)R1-mediated Ca(2+) release and is associated with ataxia and miosis

新型ITPR1 p.Phe2566Ser变异体损害IP(3)R1介导的Ca(2+)释放,并与共济失调和瞳孔缩小有关。

Wincent, Josephine; Zhang, Songbai; Nolan, Andrew; Kanatani, Shigeaki; Nordin, Frida; Kvarnung, Malin; Uhlén, Per; Paucar, Martin; Eidhof, Ilse

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

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS

北欧FMR1前突变携带者队列的临床异质性及FXTAS患者的基底神经节萎缩

Berglund, Sofia; Hashim, Farouk; Laffita-Mesa, José; Malmgren, Helena; Anderlid, Britt-Marie; Granberg, Tobias; Sjöström, Henrik; Svenningsson, Per; Paucar, Martin

ATP1A3 dysfunction causes motor hyperexcitability and afterhyperpolarization loss in a dystonia model

ATP1A3功能障碍导致肌张力障碍模型中运动过度兴奋和后超极化丧失

Akkuratov, Evgeny E; Sorrell, Francesca; Picton, Laurence D; Sousa, Vasco C; Paucar, Martin; Jans, Daniel; Svensson, Lill-Britt; Lindskog, Maria; Fritz, Nicolas; Liebmann, Thomas; Sillar, Keith T; Rosewich, Hendrik; Svenningsson, Per; Brismar, Hjalmar; Miles, Gareth B; Aperia, Anita

Widespread Skin Telangiectasias in Spinocerebellar Ataxia Type 27B

脊髓小脑性共济失调27B型中的广泛性皮肤毛细血管扩张

Alm, Victor; Thonberg, Håkan; Svenningsson, Per; Paucar, Martin

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

Repeat Variants, Biomarkers, and Molecular Signatures in Parkinson's Disease: ATXN2, ATXN3, CACNA1A, PRNP, TBP, C9ORF72, TOMM40, APOE, and POLG-A Swedish Perspective

帕金森病中的重复序列变异、生物标志物和分子特征:ATXN2、ATXN3、CACNA1A、PRNP、TBP、C9ORF72、TOMM40、APOE 和 POLG——瑞典视角

Laffita-Mesa, Jose Miguel; Paucar, Martin; Svenningsson, Per

Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder

急性前庭综合征揭示了RFC1谱系障碍

Verrecchia, Luca; Alm, Victor; Thonberg, Håkan; Lenner, Felix; Paivandy, Aida; Feuk, Lars; Lindstrand, Anna; Nilsson, Daniel; Paucar, Martin

The clinical spectrum of ataxia telangiectasia in a cohort in Sweden

瑞典人群中毛细血管扩张性共济失调的临床谱

Lindahl, Hannes; Svensson, Eva; Danielsson, Annika; Puschmann, Andreas; Svenningson, Per; Tesi, Bianca; Paucar, Martin