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

FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium

加拿大罕见病护理联盟中未确诊成人发病型共济失调患者的FGF14 GAA内含子扩增

Cuillerier, Alexanne; Del Gobbo, Giulia F; Mackay, Layla; Wall, Erika; Couse, Madeline; McDonell, Laura M; Cloutier, Mireille; Danzi, Matt C; Warman-Chardon, Jodi; Bourque, Pierre R; Suchowersky, Oksana; Mears, Alan; Seldenthuis, Luke; Mears, Wendy; Larrigan, Laura; White-Brown, Alexandre; Pfeffer, Gerald; Bulman, Dennis E; Dyment, David; Boycott, Kym M

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

Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response

内含子FGF14 GAA重复序列扩增是下跳性眼球震颤综合征的常见病因:发生频率、表型特征及对4-氨基吡啶类药物的治疗反应

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

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency

一种与新生儿复合体V缺陷相关的复发性新生ATP5F1A基因替换

Lines, Matthew A; Cuillerier, Alexanne; Chakraborty, Pranesh; Naas, Turaya; Duque Lasio, M Laura; Michaud, Jean; Pileggi, Chantal; Harper, Mary-Ellen; Burelle, Yan; Toler, Tomi L; Sondheimer, Neal; Crawford, Heather P; Millan, Francisca; Geraghty, Michael T

A Mitochondrial Health Index Sensitive to Mood and Caregiving Stress

线粒体健康指数对情绪和照护压力敏感

Picard, Martin; Prather, Aric A; Puterman, Eli; Cuillerier, Alexanne; Coccia, Michael; Aschbacher, Kirstin; Burelle, Yan; Epel, Elissa S

Formation of mitochondrial-derived vesicles is an active and physiologically relevant mitochondrial quality control process in the cardiac system.

线粒体衍生囊泡的形成是心脏系统中活跃的、具有生理意义的线粒体质量控制过程

Cadete Virgilio J J, Deschênes Sonia, Cuillerier Alexanne, Brisebois François, Sugiura Ayumu, Vincent Amy, Turnbull Doug, Picard Martin, McBride Heidi M, Burelle Yan