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

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

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia

全基因组测序在遗传性小脑共济失调诊断中的应用价值和局限性

Yau, Wai Yan; Sullivan, Roisin; O'Connor, Emer; Pellerin, David; Parkinson, Michael H; Giunti, Paola; Dicaire, Marie-Josée; Danzi, Matt C; Züchner, Stephan; Brais, Bernard; Wood, Nicholas W; Houlden, Henry; Vandrovcova, Jana

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

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

Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)

美国大型脊髓小脑性共济失调(SCA27B)队列的临床、放射学和病理学特征

Abou Chaar, Widad; Eranki, Anirudh N; Stevens, Hannah A; Watson, Sonya L; Wong, Darice Y; Avila, Veronica S; Delfeld, Megan; Gary, Alexander J; Tawde, Sanjukta; Triebold, Malia; Cherchi, Marcello; Xie, Tao; Lockhart, Paul J; Bahlo, Melanie; Pellerin, David; Dicaire, Marie-Josée; Danzi, Matt; Zuchner, Stephan; Brais, Bernard C; Perlman, Susan; Burmeister, Margit; Paulson, Henry; Srinivasan, Sharan; Schut, Lawrence; Bower, Matthew; Bushara, Khalaf; Liao, Chuanhong; Shakkottai, Vikram G; Collins, John; Clark, H Brent; Das, Soma; Fogel, Brent L; Gomez, Christopher M

Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy

内含子FGF14 GAA重复序列扩增是导致伴有神经病变和双侧前庭病变的共济失调综合征的常见原因。

Pellerin, David; Wilke, Carlo; Traschütz, Andreas; Nagy, Sara; Currò, Riccardo; Dicaire, Marie-Josée; Garcia-Moreno, Hector; Anheim, Mathieu; Wirth, Thomas; Faber, Jennifer; Timmann, Dagmar; Depienne, Christel; Rujescu, Dan; Gazulla, José; Reilly, Mary M; Giunti, Paola; Brais, Bernard; Houlden, Henry; Schöls, Ludger; Strupp, Michael; Cortese, Andrea; Synofzik, Matthis

Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA-FGF14-Related Ataxia

儿童期起病的GAA-FGF14相关共济失调患者双侧齿状核高信号及对4-氨基吡啶的反应

Mitrotti, Pierfrancesco; Vegezzi, Elisa; Zangaglia, Roberta; Palmieri, Ilaria; Dicaire, Marie-Josée; Gana, Simone; Aghdas, Sayna Rahimi; Nicolosi, Silvia; Pichiecchio, Anna; Tassorelli, Cristina; Valente, Enza Maria; Avenali, Micol