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

Human pluripotent stem cell models of Friedreich's ataxia: innovations, considerations, and future perspectives

弗里德赖希共济失调的人类多能干细胞模型:创新、考量和未来展望

Nguyen, Ha Thi; Napierala, Marek; Napierala, Jill S

Friedreich ataxia transcriptomic dysregulation and identification of cell type-specific biomarkers: A systematic review and meta-analysis

弗里德赖希共济失调转录组失调及细胞类型特异性生物标志物的鉴定:系统评价和荟萃分析

Maddock, Marnie L; Miellet, Sara; Dongol, Anjila; Hulme, Amy J; Kennedy, Chloe K; Corben, Louise A; Finol-Urdaneta, Rocio K; Nettel-Aguirre, Alberto; Dionisi, Chiara; Delatycki, Martin B; Gottesfeld, Joel M; Pandolfo, Massimo; Soragni, Elisabetta; Bidichandani, Sanjay I; Lees, Jarmon G; Lim, Shiang Y; Napierala, Jill S; Napierala, Marek; Dottori, Mirella

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

Antisense oligonucleotide therapy for patients with Friedreich's ataxia carrying the c.165+5G>C splicing mutation.

针对携带 c.165+5G>C 剪接突变的 Friedreich 共济失调患者的反义寡核苷酸疗法

Yameogo Pouiré, Aguilar Selina, Prakash Thazha P, Rigo Frank, Lynch David R, Napierala Jill S, Napierala Marek

Anti-gene oligonucleotides targeting Friedreich's ataxia expanded GAA⋠TTC repeats increase Frataxin expression.

针对弗里德赖希共济失调的 GAAâ‹ TTC 重复序列的抗基因寡核苷酸可增加 Frataxin 表达

Mozafari Negin, Milagres Salomé, Umek Tea, Rocha Cristina S J, Vargiu Claudia M, Freyberger Fiona, Saher Osama, Napierala Marek, Napierala Jill S, Blomberg Pontus, Jørgensen Per T, Punga Tanel, Smith C I Edvard, Wengel Jesper, Zain Rula

P18.03.A EPIGENETIC INFLUENCE OF CANNABINOIDS IN GLIOBLASTOMA

P18.03.大麻素对胶质母细胞瘤的表观遗传影响

Martelli, Alain; Napierala, Marek; Puccio, Hélène; Heshmati, Hassan M; Heshmati, Hassan M; Barciszewska, A; Belter, A; Giel-Pietraszuk, M; Bartkowski, L; Naskret-Barciszewska, M Z

Spinocerebellar ataxia 27B (SCA27B)-a systematic review and a case report of a Polish family

脊髓小脑性共济失调27B型(SCA27B)——系统性综述及一例波兰家族病例报告

Hirschfeld, Adam S; Misiorek, Julia O; Dabrowska, Magdalena; Muszynski, Jakub; Gerhart, Brandon J; Zenczak, Michał; Rakoczy, Magdalena; Rolle, Katarzyna; Switonski, Pawel M; Napierala, Jill S; Handschuh, Luiza; Napierala, Marek; Badura-Stronka, Magdalena

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

Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN.

评估 FGF14 和 FXN 中 GAA 重复扩增的临床相互作用

Gerhart Brandon J, Pellerin David, Danzi Matt C, Zuchner Stephan, Brais Bernard, Matos-Rodrigues Gabriel, Nussenzweig Andre, Usdin Karen, Park Courtney C, Napierala Jill S, Lynch David R, Napierala Marek

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