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

ORFannotate: reproducible coding sequence annotation of transcriptome assemblies

ORFannotate:转录组组装的可重复编码序列注释

García-Ruiz, Sonia; Macpherson, Hannah; Caton, Laura; Ryten, Mina; Gustavsson, Emil K

Population-scale interpretation of RNA isoform diversity enabled by Isopedia

Isopedia 实现了对 RNA 同工型多样性的群体尺度解读。

Zheng, Xinchang; Kronenberg, Zev; Garcia-Ruiz, Sonia; Layer, Ryan M; Gustavsson, Emil K; Ryten, Mina; Sedlazeck, Fritz J

Astrocytic RNA editing regulates the host immune response to alpha-synuclein.

星形胶质细胞 RNA 编辑调节宿主对 α-突触核蛋白的免疫反应

D'Sa Karishma, Choi Minee L, Wagen Aaron Z, Setó-Salvia Núria, Kopach Olga, Evans James R, Rodrigues Margarida, Lopez-Garcia Patricia, Lachica Joanne, Clarke Benjamin E, Singh Jaijeet, Ghareeb Ali, Bayne James, Grant-Peters Melissa, Garcia-Ruiz Sonia, Chen Zhongbo, Rodriques Samuel, Athauda Dilan, Gustavsson Emil K, Gagliano Taliun Sarah A, Toomey Christina, Reynolds Regina H, Young George, Strohbuecker Stephanie, Warner Thomas, Rusakov Dmitri A, Patani Rickie, Bryant Clare, Klenerman David A, Gandhi Sonia, Ryten Mina

FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?

FGF14 重复长度和嵌合中断:脊髓小脑性共济失调 27B 的修饰因子?

Laß, Joshua; Thomsen, Mirja; Borsche, Max; Lüth, Theresa; Prietzsche, Julia C; Schaake, Susen; Milovanović, Andona; Macpherson, Hannah; Gustavsson, Emil K; Saffie Awad, Paula; Dragašević-Mišković, Nataša; Laabs, Björn-Hergen; König, Inke R; Westenberger, Ana; Pearson, Christopher E; Brüggemann, Norbert; Klein, Christine; Trinh, Joanne

Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy

内含子FGF14 GAA重复序列扩增影响多系统萎缩的进展和生存

Chelban, Viorica; Pellerin, David; Vijiaratnam, Nirosen; Lee, Hamin; Goh, Yen Yee; Brown, Lauren; Sambin, Sara; Seilhean, Danielle; Lehericy, Stephane; Iruzubieta, Pablo; Mohammad, Rahema; Self, Eleanor; Scardamaglia, Annarita; Lee, Cameron; Ostrozovicova, Miriama; Dicaire, Marie-Josée; Girges, Christine; Gustavsson, Emil K; Murphy, David; Curless, Toby; Laß, Joshua; Trinh, Joanne; Rittman, Timothy; Rowe, James B; Hadjivassiliou, Marios; Archibald, Neil; Danzi, Matt C; Ashton, Catherine; Roth, Virginie; Wandzel, Marion; Cheung, Warren A; Gveric, Djordje O; De Vil, Bart; Follett, Jordan; Leigh, P Nigel; Beichert, Lukas; Pastinen, Tomi; Bonnet, Céline; Renaud, Mathilde; Meissner, Wassilios G; Sieben, Anne; Crosiers, David; Cras, Patrick; Zuchner, Stephan; Corvol, Jean-Christophe; Farrer, Matthew J; Synofzik, Matthis; Brais, Bernard; Warner, Tom; Morris, Huw R; Jaunmuktane, Zane; Foltynie, Tom; Houlden, Henry

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

RNApysoforms: fast rendering interactive visualization of RNA isoform structure and expression in Python

RNApysoforms:用 Python 快速渲染 RNA 异构体结构和表达的交互式可视化

Aguzzoli Heberle, Bernardo; Page, Madeline L; Gustavsson, Emil K; Ryten, Mina; Ebbert, Mark T W

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses

RAB32 Ser71Arg 与常染色体显性帕金森病:连锁、关联和功能分析

Gustavsson, Emil K; Follett, Jordan; Trinh, Joanne; Barodia, Sandeep K; Real, Raquel; Liu, Zhiyong; Grant-Peters, Melissa; Fox, Jesse D; Appel-Cresswell, Silke; Stoessl, A Jon; Rajput, Alex; Rajput, Ali H; Auer, Roland; Tilney, Russel; Sturm, Marc; Haack, Tobias B; Lesage, Suzanne; Tesson, Christelle; Brice, Alexis; Vilariño-Güell, Carles; Ryten, Mina; Goldberg, Matthew S; West, Andrew B; Hu, Michele T; Morris, Huw R; Sharma, Manu; Gan-Or, Ziv; Samanci, Bedia; Lis, Pawel; Periñan, Maria Teresa; Amouri, Rim; Ben Sassi, Samia; Hentati, Faycel; Tonelli, Francesca; Alessi, Dario R; Farrer, Matthew J

Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)

致编辑的信:关于神经元核内包涵体病中的霍纳林沉积物:Park等人(2022)直接鉴定包涵体中具有组成偏倚区域的蛋白质

Luo, Huihui; Gustavsson, Emil K; Macpherson, Hannah; Dominik, Natalia; Zhelcheska, Kristina; Montgomery, Kylie; Anderson, Claire; Yau, Wai Yan; Efthymiou, Stephanie; Turner, Chris; DeTure, Michael; Dickson, Dennis W; Josephs, Keith A; Revesz, Tamas; Lashley, Tammaryn; Halliday, Glenda; Rowe, Dominic B; McCann, Emily; Blair, Ian; Lees, Andrew J; Tienari, Pentti J; Suomalainen, Anu; Molina-Porcel, Laura; Kovacs, Gabor G; Gelpi, Ellen; Hardy, John; Haltia, Matti J; Tucci, Arianna; Jaunmuktane, Zane; Ryten, Mina; Houlden, Henry; Chen, Zhongbo

Ancestry-specific gene expression in peripheral monocytes mediates risk of neurodegenerative disease

外周单核细胞中祖先特异性基因表达介导神经退行性疾病的风险

Wagen, Aaron Z; Reynolds, Regina H; Foo, Jia Nee; Fairbrother-Browne, Aine; Gustavsson, Emil K; Galgiano-Turin, Sarah; Wood, Nicholas W; Blauwendraat, Cornelis; Gandhi, Sonia; Ryten, Mina