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

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

FGF14-SCA27B GAA•TTC重复序列的体细胞不稳定性揭示了小脑中明显的扩增偏向性

Pellerin, David; Méreaux, Jean-Loup; Boluda, Susana; Danzi, Matt C; Dicaire, Marie-Josée; Davoine, Claire-Sophie; Genis, David; Spurdens, Guinevere; Ashton, Catherine; Hammond, Jillian M; Gerhart, Brandon J; Chelban, Viorica; Le, Phuong U; Safisamghabadi, Maryam; Yanick, Christopher; Lee, Hamin; Nageshwaran, Sathiji K; Matos-Rodrigues, Gabriel; Jaunmuktane, Zane; Petrecca, Kevin; Akbarian, Schahram; Nussenzweig, André; Usdin, Karen; Renaud, Mathilde; Bonnet, Céline; Ravenscroft, Gianina; Saporta, Mario A; Napierala, Jill S; Houlden, Henry; Deveson, Ira W; Napierala, Marek; Brice, Alexis; Molina Porcel, Laura; Seilhean, Danielle; Zuchner, Stephan; Durr, Alexandra; Brais, Bernard

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

Two cowpea Rubisco activase isoforms for crop thermotolerance

豇豆中两种Rubisco激活酶同工酶与作物耐热性相关

Gjindali, Armida; Page, Rhiannon; Ashton, Catherine J; Robertson, Ingrid; Page, Mike T; Bloemers, Duncan; Gould, Peter D; Worrall, Dawn; Orr, Douglas J; Carmo-Silva, Elizabete

Cinchona alkaloid copolymers as fluorimetric INHIBIT and colorimetric AND logic gates for detection of iodide

金鸡纳生物碱共聚物作为荧光抑制门和比色与逻辑门用于检测碘化物

Agius, Nicola'; Ashton, Catherine J; Willcock, Helen; Magri, David C

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort

阐明SCA27B的致病阈值和表型谱:来自大型法裔加拿大队列的研究结果

Iruzubieta, Pablo; Pellerin, David; Ashton, Catherine; Villa, Felipe; Renaud, Mathilde; Dicaire, Marie-Josée; Danzi, Matt C; Aldecoa, Mayra; Mathieu, Jean; Massie, Rami; Chalk, Colin H; Lafontaine, Anne-Louise; Evoy, François; Rioux, Marie-France; Brisson, Jean-Denis; Boycott, Kym M; Houlden, Henry; Synofzik, Matthis; La Piana, Roberta; Zuchner, Stephan; Duquette, Antoine; Brais, Bernard

Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia

GAA-FGF14共济失调中小脑上脚的参与

Chen, Shihan; Ashton, Catherine; Sakalla, Rawan; Clement, Guillemette; Planel, Sophie; Bonnet, Céline; Lamont, Phillipa J; Kulanthaivelu, Karthik; Nalini, Atchayaram; Houlden, Henry; Duquette, Antoine; Dicaire, Marie-Josée; Iruzubieta Agudo, Pablo; Ruiz-Martinez, Javier; Marco De Lucas, Enrique; Sutil Berjon, Rodrigo; Infante Ceberio, Jon; Indelicato, Elisabetta; Boesch, Sylvia M; Synofzik, Matthis; Bender, Benjamin; Danzi, Matt C; Zuchner, Stephan; Pellerin, David; Brais, Bernard; Renaud, Mathilde; La Piana, Roberta

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.

CFL2 中的新型错义变异会影响 F-肌动蛋白解聚,并扩大 CFL2 相关肌病的疾病谱

Dofash Lein N H, Folland Chiara, Dyke Jason, Farhat Emna, Chaabouni Myriam, Miladi Najoua, Needham Merrilee, Lamont Phillipa J, Ashton Catherine, Ravenscroft Gianina

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review

沃尔夫拉姆综合征白质异常谱的扩展:一项回顾性研究

Simo, Justin; Lugar, Heather M; Miller, Elka; Wilf-Yarkoni, Adi; Goldberg, Yael; Kocaağa, Ayça; Ito, Shoichi; Cocozza, Sirio; Frontino, Giulio; Baldoli, Cristina; Benbachir, Aziz; Ashton, Catherine; Rouleau, Guy A; Hershey, Tamara; Nadjar, Yann; La Piana, Roberta

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

常见的侧翼变异与 FGF14-SCA27B 重复基因座的稳定性增强有关

Pellerin David, Del Gobbo Giulia F, Couse Madeline, Dolzhenko Egor, Nageshwaran Sathiji K, Cheung Warren A, Xu Isaac R L, Dicaire Marie-Josée, Spurdens Guinevere, Matos-Rodrigues Gabriel, Stevanovski Igor, Scriba Carolin K, Rebelo Adriana, Roth Virginie, Wandzel Marion, Bonnet Céline, Ashton Catherine, Agarwal Aman, Peter Cyril, Hasson Dan, Tsankova Nadejda M, Dewar Ken, Lamont Phillipa J, Laing Nigel G, Renaud Mathilde, Houlden Henry, Synofzik Matthis, Usdin Karen, Nussenzweig Andre, Napierala Marek, Chen Zhao, Jiang Hong, Deveson Ira W, Ravenscroft Gianina, Akbarian Schahram, Eberle Michael A, Boycott Kym M, Pastinen Tomi, Brais Bernard, Zuchner Stephan, Danzi Matt C

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

GAA-FGF14 疾病:在一个大型下跳性眼球震颤队列中确定其发生率、分子基础和 4-氨基吡啶反应

Pellerin, David; Heindl, Felix; Wilke, Carlo; Danzi, Matt C; Traschütz, Andreas; Ashton, Catherine; Dicaire, Marie-Josée; Cuillerier, Alexanne; Del Gobbo, Giulia; Boycott, Kym M; Claassen, Jens; Rujescu, Dan; Hartmann, Annette M; Zuchner, Stephan; Brais, Bernard; Strupp, Michael; Synofzik, Matthis