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

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants

由HK1单等位基因变异引起的神经发育障碍的临床、神经影像学和代谢特征

Wortmann, Saskia B; Feichtinger, Rene G; Abela, Lucia; van Gemert, Loes A; Aubart, Mélodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stühn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Mühlhausen, Chris; Rio, Marlène; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B; Syrbe, Steffen; Zylicz, Stas A; Thiel, Christian; Veiga da Cunha, Maria; van Schaftingen, Emile; Wagner, Matias; Mayr, Johannes A; Wevers, Ron A; Boltshauser, Eugen; Willemsen, Michel A

Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling

白藜芦醇对患者成纤维细胞呼吸链缺陷的有益作用涉及雌激素受体和雌激素相关受体 α 信号传导

Alexandra Lopes Costa, Carole Le Bachelier, Lise Mathieu, Agnès Rotig, Avihu Boneh, Pascale De Lonlay, Mark A Tarnopolsky, David R Thorburn, Jean Bastin, Fatima Djouadi

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

YARS2线粒体肌病、乳酸性酸中毒和铁粒幼细胞性贫血的表型变异及新型YARS2突变的鉴定

Riley, Lisa G; Menezes, Minal J; Rudinger-Thirion, Joëlle; Duff, Rachael; de Lonlay, Pascale; Rotig, Agnes; Tchan, Michel C; Davis, Mark; Cooper, Sandra T; Christodoulou, John

Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans

人类极体与卵母细胞和卵裂球中致病性线粒体DNA突变水平相关性较差

Gigarel, Nadine; Hesters, Laetitia; Samuels, David C; Monnot, Sophie; Burlet, Philippe; Kerbrat, Violaine; Lamazou, Frédéric; Benachi, Alexandra; Frydman, René; Feingold, Josué; Rotig, Agnes; Munnich, Arnold; Bonnefont, Jean-Paul; Frydman, Nelly; Steffann, Julie

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

XPNPEP3 基因发生突变(该基因编码一种线粒体蛋白)的个体,会发展出类似肾痨的肾病。

Neill, Ushma S; Honey, Karen; O’Toole, John F; Liu, Yangjian; Davis, Erica E; Westlake, Christopher J; Attanasio, Massimo; Otto, Edgar A; Seelow, Dominik; Nurnberg, Gudrun; Becker, Christian; Nuutinen, Matti; Kärppä, Mikko; Ignatius, Jaakko; Uusimaa, Johanna; Pakanen, Salla; Jaakkola, Elisa; van den Heuvel, Lambertus P; Fehrenbach, Henry; Wiggins, Roger; Goyal, Meera; Zhou, Weibin; Wolf, Matthias TF; Wise, Eric; Helou, Juliana; Allen, Susan J; Murga-Zamalloa, Carlos A; Ashraf, Shazia; Chaki, Moumita; Heeringa, Saskia; Chernin, Gil; Hoskins, Bethan E; Chaib, Hassan; Gleeson, Joseph; Kusakabe, Takehiro; Suzuki, Takako; Isaac, R Elwyn; Quarmby, Lynne M; Tennant, Bryan; Fujioka, Hisashi; Tuominen, Hannu; Hassinen, Ilmo; Lohi, Hellevi; van Houten, Judith L; Rotig, Agnes; Sayer, John A; Rolinski, Boris; Freisinger, Peter; Madhavan, Sethu M; Herzer, Martina; Madignier, Florence; Prokisch, Holger; Nurnberg, Peter; Jackson, Peter K; Khanna, Hemant; Katsanis, Nicholas; Hildebrandt, Friedhelm

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

TMEM126A基因编码一种线粒体蛋白,该基因突变会导致常染色体隐性非综合征型视神经萎缩。

Hanein, Sylvain; Perrault, Isabelle; Roche, Olivier; Gerber, Sylvie; Khadom, Noman; Rio, Marlene; Boddaert, Nathalie; Jean-Pierre, Marc; Brahimi, Nora; Serre, Valérie; Chretien, Dominique; Delphin, Nathalie; Fares-Taie, Lucas; Lachheb, Sahran; Rotig, Agnès; Meire, Françoise; Munnich, Arnold; Dufier, Jean-Louis; Kaplan, Josseline; Rozet, Jean-Michel

New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation

线粒体遗传背景悖论的新证据:J单倍群对A3243G突变的影响

Pierron, Denis; Rocher, Christophe; Amati-Bonneau, Patricia; Reynier, Pascal; Martin-Négrier, Marie-Laure; Allouche, Stéphane; Batandier, Cécile; Mousson de Camaret, Benedicte; Godinot, Catherine; Rotig, Agnes; Feldmann, Delphine; Bellanne-Chantelot, Christine; Arveiler, Benoit; Pennarun, Erwann; Rossignol, Rodrigue; Crouzet, Marc; Murail, Pascal; Thoraval, Didier; Letellier, Thierry