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

SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

SORD缺陷大鼠出现以运动功能为主的周围神经病变,揭示了新的病理生理学见解。

Rebelo, Adriana P; Abad, Clemer; Dohrn, Maike F; Li, Jian J; Tieu, Ethan K; Medina, Jessica; Yanick, Christopher; Huang, Jingyu; Zotter, Brendan; Young, Juan I; Saporta, Mario; Scherer, Steven S; Walz, Katherina; Zuchner, Stephan

Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease.

针对神经丝相关夏科-马里-图斯病的定制化反义寡核苷酸疗法

Medina Jessica, Rebelo Adriana, Danzi Matt C, Jacobs Elizabeth H, Xu Isaac R L, Ahrens Kathleen P, Chen Sitong, Raposo Jacquelyn, Yanick Christopher, Zuchner Stephan, Saporta Mario A

Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy.

生成 3 株含有与隐性神经病相关的 SORD 突变的患者诱导多能干细胞系

Yanick Christopher, Maciel Renata, Jacobs Elizabeth, Schatzman Jacquelyn, Shy Michael, Zuchner Stephan, Saporta Mario

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

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

晚发性小脑共济失调中FGF14 GAA重复序列深部内含子扩增

Pellerin, David; Danzi, Matt C; Wilke, Carlo; Renaud, Mathilde; Fazal, Sarah; Dicaire, Marie-Josée; Scriba, Carolin K; Ashton, Catherine; Yanick, Christopher; Beijer, Danique; Rebelo, Adriana; Rocca, Clarissa; Jaunmuktane, Zane; Sonnen, Joshua A; Larivière, Roxanne; Genís, David; Molina Porcel, Laura; Choquet, Karine; Sakalla, Rawan; Provost, Sylvie; Robertson, Rebecca; Allard-Chamard, Xavier; Tétreault, Martine; Reiling, Sarah J; Nagy, Sara; Nishadham, Vikas; Purushottam, Meera; Vengalil, Seena; Bardhan, Mainak; Nalini, Atchayaram; Chen, Zhongbo; Mathieu, Jean; Massie, Rami; Chalk, Colin H; Lafontaine, Anne-Louise; Evoy, François; Rioux, Marie-France; Ragoussis, Jiannis; Boycott, Kym M; Dubé, Marie-Pierre; Duquette, Antoine; Houlden, Henry; Ravenscroft, Gianina; Laing, Nigel G; Lamont, Phillipa J; Saporta, Mario A; Schüle, Rebecca; Schöls, Ludger; La Piana, Roberta; Synofzik, Matthis; Zuchner, Stephan; Brais, Bernard

Neuron-Schwann cell interactions in peripheral nervous system homeostasis, disease, and preclinical treatment

神经元-雪旺细胞相互作用在周围神经系统稳态、疾病和临床前治疗中的作用

Oliveira, Julia Teixeira; Yanick, Christopher; Wein, Nicolas; Gomez Limia, Cintia Elisabeth