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

Single-cell multi-omic analysis of mitochondrial mutational mosaicism and dynamics

线粒体突变嵌合体及其动态的单细胞多组学分析

Hsieh, Yu-Hsin; Kautz, Pauline; Nitsch, Lena; Giguelay, Ambre M; Liebold, Janet; Dimitrova, Veronika; Contreras Castillo, Stephania; Jungen, Freya; Zsurka, Gabor; Trombly, Genevieve; Schuelke, Markus; Kunz, Wolfram S; Lareau, Caleb A; Ludwig, Leif S

Blockage of autophagy causes severe skeletal muscle disruption in a mouse model for myofibrillar myopathy 6

在肌原纤维肌病小鼠模型中,自噬阻断会导致严重的骨骼肌功能障碍<sup>6</sup>

Filippi, Kerstin; Graf-Riesen, Kathrin; Kuppusamy, Maithreyan; Unger, Andreas; Kimura, Kenichi; Matijass, Martin; Baeta, Henrique; Podlacha, Magdalena; Haertter, Daniel; Kudin, Alexei P; Wiemann, Martin; Węgrzyn, Grzegorz; Kornblum, Cornelia; Reimann, Jens; Linke, Wolfgang A; Huesgen, Pitter F; Kunz, Wolfram S; Fleischmann, Bernd K; Hesse, Michael

Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency

甲羟戊酸激酶缺乏症引起的线粒体功能障碍导致的肌病和共济失调

Pugliese, Alessia; von Landenberg, Christina; Gallizzi, Romina; Migliorato, Alba; Pierno, Sabata; Rodolico, Carmelo; Kornblum, Cornelia; Arena, Ignazio Giuseppe; Kunz, Wolfram S; Reimann, Jens; Toscano, Antonio; Musumeci, Olimpia

Complexity of Inheritance of Pathogenic Mutations Associated with Epilepsy in Consanguine Families from Pakistan

巴基斯坦近亲结婚家庭中与癫痫相关的致病突变遗传的复杂性

Tahira, Khajista; Ullah, Anwar; Ullah, Fazl; Aziz, Jeena; Javed, Muhammad Ishaq; Kiyani, Aasma; Khanum, Azra; Hallmann, Kerstin; Baumgartner, Tobias; Surges, Rainer; Shaiq, Pakeeza Arzoo; Kunz, Wolfram S

Ligase 3 prevents oxidative strand break-induced mitochondrial DNA loss but is not essential for replicative circularization

连接酶3可防止氧化链断裂引起的线粒体DNA丢失,但并非复制环化所必需。

Trombly, Genevieve; Said, Afaf Milad; Kudin, Alexei P; Hallmann, Kerstin; Kakabadze, Anano; Peeva, Viktoriya; Becker, Kerstin; Köhrer, Karl; Zsurka, Gábor; Kunz, Wolfram S

Deciphering the Foundations of Mitochondrial Mutational Spectra: Replication-Driven and Damage-Induced Signatures Across Chordate Classes

解读线粒体突变谱的基础:脊索动物各纲中复制驱动和损伤诱导的特征

Iliushchenko, Dmitrii; Efimenko, Bogdan; Mikhailova, Alina G; Shamanskiy, Victor; Saparbaev, Murat K; Matkarimov, Bakhyt T; Mazunin, Ilya; Voronka, Alexandr; Knorre, Dmitry; Kunz, Wolfram S; Kapranov, Philipp; Denisov, Stepan; Fellay, Jacques; Khrapko, Konstantin; Gunbin, Konstantin; Popadin, Konstantin

Rasmussen's encephalitis: structural, functional, and clinical correlates of contralesional epileptiform activity

拉斯穆森脑炎:对侧病灶癫痫样活动的结构、功能和临床相关性

Bauer, Tobias; von Wrede, Randi D; Pujar, Suresh; Rácz, Attila; Hoppe, Christian; Baumgartner, Tobias; Varadkar, Sophia; Held, Nina R; Reiter, Johannes T; Enders, Selma; David, Bastian; Prillwitz, Conrad C; Brugues, Mar; Keil, Vera C W; Jeub, Monika; Borger, Valeri; Sander, Josemir W; Kunz, Wolfram S; Radbruch, Alexander; Weber, Bernd; Helmstaedter, Christoph; Vatter, Hartmut; Baldeweg, Torsten; Becker, Albert J; Cross, J Helen; Surges, Rainer; Rüber, Theodor

Identification of galectin-3 as a novel potential prognostic/predictive biomarker and therapeutic target for cerebral cavernous malformation disease

半乳糖凝集素-3被鉴定为脑海绵状血管畸形疾病的新型潜在预后/预测生物标志物和治疗靶点

Kar, Souvik; Perrelli, Andrea; Bali, Kiran Kumar; Mastrocola, Raffaella; Kar, Arpita; Khan, Bushra; Gand, Luis; Nayak, Arnab; Hartmann, Christian; Kunz, Wolfram S; Samii, Amir; Bertalanffy, Helmut; Retta, Saverio Francesco

A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies

一项针对抗GAD65自身抗体的自身免疫性神经系统综合征的全基因组关联研究

Strippel, Christine; Herrera-Rivero, Marisol; Wendorff, Mareike; Tietz, Anja K; Degenhardt, Frauke; Witten, Anika; Schroeter, Christina; Nelke, Christopher; Golombeck, Kristin S; Madlener, Marie; Rüber, Theodor; Ernst, Leon; Racz, Attila; Baumgartner, Tobias; Widman, Guido; Doppler, Kathrin; Thaler, Franziska; Siebenbrodt, Kai; Dik, Andre; Kerin, Constanze; Räuber, Saskia; Gallus, Marco; Kovac, Stjepana; Grauer, Oliver M; Grimm, Alexander; Prüss, Harald; Wickel, Jonathan; Geis, Christian; Lewerenz, Jan; Goebels, Norbert; Ringelstein, Marius; Menge, Til; Tackenberg, Björn; Kellinghaus, Christoph; Bien, Christian G; Kraft, Andrea; Zettl, Uwe; Ismail, Fatme Seval; Ayzenberg, Ilya; Urbanek, Christian; Sühs, Kurt-Wolfram; Tauber, Simone C; Mues, Sigrid; Körtvélyessy, Peter; Markewitz, Robert; Paliantonis, Asterios; Elger, Christian E; Surges, Rainer; Sommer, Claudia; Kümpfel, Tania; Gross, Catharina C; Lerche, Holger; Wellmer, Jörg; Quesada, Carlos M; Then Bergh, Florian; Wandinger, Klaus-Peter; Becker, Albert J; Kunz, Wolfram S; Meyer Zu Hörste, Gerd; Malter, Michael P; Rosenow, Felix; Wiendl, Heinz; Kuhlenbäumer, Gregor; Leypoldt, Frank; Lieb, Wolfgang; Franke, Andre; Meuth, Sven G; Stoll, Monika; Melzer, Nico

Loss of the Immunomodulatory Transcription Factor BATF2 in Humans Is Associated with a Neurological Phenotype

人类免疫调节转录因子BATF2的缺失与神经系统表型相关

Zsurka, Gábor; Appel, Maximilian L T; Nastaly, Maximilian; Hallmann, Kerstin; Hansen, Niels; Nass, Daniel; Baumgartner, Tobias; Surges, Rainer; Hartmann, Gunther; Bartok, Eva; Kunz, Wolfram S