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

An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein

一种与编码线粒体Ugo1样蛋白的SLC25A46基因双等位基因变异相关的孤立性视神经病变

期刊:Neuro-Ophthalmology
影响因子:0.8
doi:10.1080/01658107.2025.2581675
Reynier, Pascal; Amati-Bonneau, Patrizia; Desquiret-Dumas, Valérie; Ferré, Marc; Gueguen, Naïg; Plouzennec, Solenn; Michel, Mathieu; Chevrollier, Arnaud; Pegat, Antoine; Orssaud, Christophe
线粒体
发表日期：2026
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MetabOCT: a clinical trial looking for a metabolomic signature predicting the onset of Leber's hereditary optic neuropathy in healthy MtDNA mutations carriers

MetabOCT：一项临床试验，旨在寻找预测健康线粒体DNA突变携带者发生莱伯氏遗传性视神经病变的代谢组学特征。

期刊:Metabolomics
影响因子:3.3
doi:10.1007/s11306-025-02328-x
Orssaud, Christophe; Reynier, Pascal
线粒体
代谢
发表日期：2025
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Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial

丙戊酸钠，一种潜在的用于治疗沃尔夫拉姆综合征神经退行性疾病的药物（TREATWOLFRAM）：一项关键性多中心、随机、双盲对照试验的试验方案

期刊:BMJ Open
影响因子:2.3
doi:10.1136/bmjopen-2024-091495
Dias, Renuka P; Brock, Kristian; Hu, Kun; Gupta, Rajat; Martin, Una; Peet, Andrew; Wilson, Martin; Yu-Wai-Man, Patrick; Wright, Benjamin; Mollan, Susan; Kulkarni, Archana; Meunier, Isabelle; Billingham, Lucinda; Nagy, Zsuzsanna; Rose, Heather; Koks, Sulev; Zatyka, Malgorzata; Astuti, Dewi; Lynch, Tracy; Morrison, Karen E; Barton, Darren; Cronier, Sabrina; Malpass, Rebecca; Evans, Ruth; Malhi, Amandip; Takhar, Pooja; Lamb, Amy; Esteban-Bueno, Gema; Młynarski, Wojciech; Orssaud, Christophe; Roubertie, Agathe; Homer, Victoria; Barrett, Timothy
神经科学
发表日期：2025
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Letter to the editor on: prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume

致编辑的信：预防性烟酰胺治疗可通过增加线粒体含量和体积来保护神经免受鱼藤酮诱导的神经退行性变。

期刊:Acta Neuropathologica Communications
影响因子:5.7
doi:10.1186/s40478-024-01768-1
Bocca, Cinzia; Kouassi-Nzoughet, Judith; Chao de la Barca, Juan Manuel; Bonneau, Dominique; Verny, Christophe; Gohier, Philippe; Orssaud, Christophe; Reynier, Pascal
线粒体
神经科学
发表日期：2024
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The Optic Nerve at Stake: Update on Environmental Factors Modulating Expression of Leber's Hereditary Optic Neuropathy

视神经岌岌可危：调节莱伯氏遗传性视神经病变表达的环境因素最新进展

期刊:Biomedicines
影响因子:3.9
doi:10.3390/biomedicines12030584
Layrolle, Pierre; Orssaud, Christophe; Leleu, Maryse; Payoux, Pierre; Chavanas, Stéphane
发表日期：2024
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Case Report: Abnormalities of sperm motility and morphology in a patient with Leber hereditary optic neuropathy: Improvement after idebenone therapy

病例报告：Leber遗传性视神经病变患者精子活力和形态异常：艾地苯醌治疗后改善

期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2022.946559
Orssaud, Christophe; Barraud Lange, Virginie; Wolf, Jean Philippe; LeFoll, Nathalie; Soufir, Jean Claude
发表日期：2022
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Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56

弹性假黄瘤与遗传性痉挛性截瘫 56 型重叠

期刊:Journal of Internal Medicine
影响因子:9
doi:10.1111/joim.13193
A Legrand, C Pujol, C M Durand, A Mesnil, I Rubera, C Duranton, S Zuily, A B Sousa, M Renaud, J L Boucher, N Pietrancosta, S Adham, C Orssaud, C Marelli, C Casali, L Ziccardi, N Villain, C Ewenczyk, A Durr, C Mignot, G Stevanin, C Billon, M Hureaux, X Jeunemaitre, C Goizet, J Albuisson
肿瘤
发表日期：2021
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A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies

莱伯遗传性视神经病变的血浆代谢组学特征显示牛磺酸和烟酰胺缺乏

期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddab013
Bocca, Cinzia; Le Paih, Victor; Chao de la Barca, Juan Manuel; Kouassy Nzoughet, Judith; Amati-Bonneau, Patrizia; Blanchet, Odile; Védie, Benoit; Géromin, Daniela; Simard, Gilles; Procaccio, Vincent; Bonneau, Dominique; Lenaers, Guy; Orssaud, Christophe; Reynier, Pascal
代谢
发表日期：2021
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Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy

环孢素A不能预防莱伯氏遗传性视神经病变累及第二只眼睛。

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-018-0773-y
Leruez, Stéphanie; Verny, Christophe; Bonneau, Dominique; Procaccio, Vincent; Lenaers, Guy; Amati-Bonneau, Patrizia; Reynier, Pascal; Scherer, Clarisse; Prundean, Adriana; Orssaud, Christophe; Zanlonghi, Xavier; Rougier, Marie-Bénédicte; Tilikete, Caroline; Miléa, Dan
发表日期：2018
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Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

隐性和显性从头发生的ITPR1突变导致吉莱斯皮综合征

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.03.004
Gerber, Sylvie; Alzayady, Kamil J; Burglen, Lydie; Brémond-Gignac, Dominique; Marchesin, Valentina; Roche, Olivier; Rio, Marlène; Funalot, Benoit; Calmon, Raphaël; Durr, Alexandra; Gil-da-Silva-Lopes, Vera Lucia; Ribeiro Bittar, Maria Fernanda; Orssaud, Christophe; Héron, Bénédicte; Ayoub, Edward; Berquin, Patrick; Bahi-Buisson, Nadia; Bole, Christine; Masson, Cécile; Munnich, Arnold; Simons, Matias; Delous, Marion; Dollfus, Helene; Boddaert, Nathalie; Lyonnet, Stanislas; Kaplan, Josseline; Calvas, Patrick; Yule, David I; Rozet, Jean-Michel; Fares Taie, Lucas
TPR
发表日期：2016
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