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

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy

患有不同程度神经系统疾病且伴有或不伴有心肌病的个体中新型 ELAC2 突变

期刊:Life-Basel
影响因子:
doi:10.3390/life13020445
Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Benedetta Ruzzenente, Metodi D Metodiev
心血管
神经
心肌病
发表日期：2023
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Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

早发性脑病（伴或不伴癫痫）患者的新型 FARS2 变异与长期生存相关

期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/s41431-020-00757-x
Giulia Barcia, Marlène Rio, Zahra Assouline, Coralie Zangarelli, Charles-Joris Roux, Pascale de Lonlay, Julie Steffann, Isabelle Desguerre, Arnold Munnich, Jean-Paul Bonnefont, Nathalie Boddaert, Agnès Rötig, Metodi D Metodiev, Benedetta Ruzzenente
神经
癫痫
发表日期：2021
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Linear Density Sucrose Gradients to Study Mitoribosomal Biogenesis in Tissue-Specific Knockout Mice

线性密度蔗糖梯度研究组织特异性基因敲除小鼠的线粒体核糖体生物合成

期刊:Methods in Molecular Biology
影响因子:
doi:10.1007/978-1-0716-1008-4_3
Benedetta Ruzzenente, Metodi D Metodiev
信号转导
发表日期：2021
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Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement

宫内生长迟缓、颅面畸形及多系统受累患者中编码小线粒体亚基蛋白 bS1m 的 MRPS28 基因突变

期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddy441
Juliette Pulman, Benedetta Ruzzenente, Lucas Bianchi, Marlène Rio, Nathalie Boddaert, Arnold Munnich, Agnès Rötig, Metodi D Metodiev
信号转导
发表日期：2019
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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

MRPS34基因的双等位基因突变导致线粒体核糖体小亚基不稳定和莱氏综合征

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.03.015
Lake, Nicole J; Webb, Bryn D; Stroud, David A; Richman, Tara R; Ruzzenente, Benedetta; Compton, Alison G; Mountford, Hayley S; Pulman, Juliette; Zangarelli, Coralie; Rio, Marlene; Boddaert, Nathalie; Assouline, Zahra; Sherpa, Mingma D; Schadt, Eric E; Houten, Sander M; Byrnes, James; McCormick, Elizabeth M; Zolkipli-Cunningham, Zarazuela; Haude, Katrina; Zhang, Zhancheng; Retterer, Kyle; Bai, Renkui; Calvo, Sarah E; Mootha, Vamsi K; Christodoulou, John; Rötig, Agnes; Filipovska, Aleksandra; Cristian, Ingrid; Falk, Marni J; Metodiev, Metodi D; Thorburn, David R
线粒体
发表日期：2018
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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

线粒体核糖体蛋白MRPS2的双等位基因突变会导致感觉神经性听力损失、低血糖和多种氧化磷酸化复合物缺陷。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.02.012
Gardeitchik, Thatjana; Mohamed, Miski; Ruzzenente, Benedetta; Karall, Daniela; Guerrero-Castillo, Sergio; Dalloyaux, Daisy; van den Brand, Mariël; van Kraaij, Sanne; van Asbeck, Ellyze; Assouline, Zahra; Rio, Marlene; de Lonlay, Pascale; Scholl-Buergi, Sabine; Wolthuis, David F G J; Hoischen, Alexander; Rodenburg, Richard J; Sperl, Wolfgang; Urban, Zsolt; Brandt, Ulrich; Mayr, Johannes A; Wong, Sunnie; de Brouwer, Arjan P M; Nijtmans, Leo; Munnich, Arnold; Rötig, Agnès; Wevers, Ron A; Metodiev, Metodi D; Morava, Eva
信号转导
磷酸化
线粒体
发表日期：2018
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Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

脑铁沉积神经退行性疾病中转铁蛋白受体棕榈酰化和再循环受损

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.01.003
Anthony Drecourt ,Joël Babdor ,Michael Dussiot ,Floriane Petit ,Nicolas Goudin ,Meriem Garfa-Traoré ,Florence Habarou ,Christine Bole-Feysot ,Patrick Nitschké ,Chris Ottolenghi ,Metodi D Metodiev ,Valérie Serre ,Isabelle Desguerre ,Nathalie Boddaert ,Olivier Hermine ,Arnold Munnich ,Agnès Rötig
信号转导
神经科学
发表日期：2018
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Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis

表达 KARS p.(Pro228Leu) 变异并出现神经性耳聋、发育迟缓和乳酸性酸中毒的患者的成纤维细胞中的线粒体翻译受到抑制

期刊:Human Mutation
影响因子:3.3
doi:10.1002/humu.23657
Benedetta Ruzzenente, Zahra Assouline, Giulia Barcia, Marlène Rio, Nathalie Boddaert, Arnold Munnich, Agnès Rötig, Metodi D Metodiev
信号转导
神经
耳聋耳鸣
成纤维细胞
Translational Control
发表日期：2018
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Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

复合物 I 组装因子 TMEM126B 的突变导致肌肉无力和孤立性复合物 I 缺陷

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.05.022
Sánchez-Caballero, Laura; Ruzzenente, Benedetta; Bianchi, Lucas; Assouline, Zahra; Barcia, Giulia; Metodiev, Metodi D; Rio, Marlène; Funalot, Benoît; van den Brand, Mariël A M; Guerrero-Castillo, Sergio; Molenaar, Joery P; Koolen, David; Brandt, Ulrich; Rodenburg, Richard J; Nijtmans, Leo G; Rötig, Agnès
发表日期：2016
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Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood

假尿苷酸合成酶 (PUS1) 突变的异常临床表现和长期存活至成年期

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2014.192
Metodiev, Metodi D; Assouline, Zahra; Landrieu, Pierre; Chretien, Dominique; Bader-Meunier, Brigitte; Guitton, Corinne; Munnich, Arnold; Rötig, Agnès
PUS1
发表日期：2015
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