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

Primary mitochondrial disorders and mimics: Insights from a large French cohort

原发性线粒体疾病及其类似疾病:来自法国大型队列研究的启示

Rouzier, Cécile; Pion, Emmanuelle; Chaussenot, Annabelle; Bris, Céline; Ait-El-Mkadem Saadi, Samira; Desquiret-Dumas, Valérie; Gueguen, Naïg; Fragaki, Konstantina; Amati-Bonneau, Patrizia; Barcia, Giulia; Gaignard, Pauline; Steffann, Julie; Pennisi, Alessandra; Bonnefont, Jean-Paul; Lebigot, Elise; Bannwarth, Sylvie; Francou, Bruno; Rucheton, Benoit; Sternberg, Damien; Martin-Negrier, Marie-Laure; Trimouille, Aurélien; Hardy, Gaëlle; Allouche, Stéphane; Acquaviva-Bourdain, Cécile; Pagan, Cécile; Lebre, Anne-Sophie; Reynier, Pascal; Cossee, Mireille; Attarian, Shahram; Paquis-Flucklinger, Véronique; Procaccio, Vincent

Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study

肾脏受累在原发性线粒体疾病成人患者中很常见:一项观察性研究

Bakis, Hugo; Trimouille, Aurélien; Vermorel, Agathe; Goizet, Cyril; Belaroussi, Yaniss; Schutz, Sacha; Solé, Guilhem; Combe, Christian; Martin-Negrier, Marie-Laure; Rigothier, Claire

Isolated CNS Sarcoidosis Versus Systemic Sarcoidosis With CNS Involvement: A Same Disease?

孤立性中枢神经系统结节病与累及中枢神经系统的全身性结节病:是同一种疾病吗?

Courtin, E; Ouallet, J C; Lazaro, E; Martin-Negrier, M-L; Cohen-Aubart, F; Duffau, P

Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I

大肠杆菌呼吸复合体 I 中两种临床相关的 ND 基因突变的生化后果

Franziska Nuber, Johannes Schimpf, Jean-Paul di Rago, Déborah Tribouillard-Tanvier, Vincent Procaccio, Marie-Laure Martin-Negrier, Aurélien Trimouille, Olivier Biner, Christoph von Ballmoos, Thorsten Friedrich1

D1 dopamine receptor stimulation impairs striatal proteasome activity in Parkinsonism through 26S proteasome disassembly

D1 多巴胺受体刺激通过 26S 蛋白酶体分解损害帕金森病中的纹状体蛋白酶体活性

Pedro Barroso-Chinea, Marie-Laure Thiolat, Simone Bido, Audrey Martinez, Evelyne Doudnikoff, Jérôme Baufreton, Mathieu Bourdenx, Bertrand Bloch, Erwan Bezard, Marie-Laure Martin-Negrier

Partial triplication of mtDNA in maternally transmitted diabetes mellitus and deafness

母系遗传性糖尿病和耳聋中线粒体DNA部分三倍体

Martin Negrier, M L; Coquet, M; Moretto, B T; Lacut, J Y; Dupon, M; Bloch, B; Lestienne, P; Vital, C