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

Ceramide accumulation induces mitophagy and impairs β-oxidation in PINK1 deficiency

PINK1缺陷导致的神经酰胺积累会诱导线粒体自噬并损害β-氧化。

Vos, Melissa; Dulovic-Mahlow, Marija; Mandik, Frida; Frese, Lisa; Kanana, Yuliia; Haissatou Diaw, Sokhna; Depperschmidt, Julia; Böhm, Claudia; Rohr, Jonas; Lohnau, Thora; König, Inke R; Klein, Christine

Mutations in GNAL: a novel cause of craniocervical dystonia

GNAL基因突变:颅颈肌张力障碍的一种新病因

Kumar, Kishore R; Lohmann, Katja; Masuho, Ikuo; Miyamoto, Ryosuke; Ferbert, Andreas; Lohnau, Thora; Kasten, Meike; Hagenah, Johann; Brüggemann, Norbert; Graf, Julia; Münchau, Alexander; Kostic, Vladimir S; Sue, Carolyn M; Domingo, Aloysius R; Rosales, Raymond L; Lee, Lilian V; Freimann, Karen; Westenberger, Ana; Mukai, Youhei; Kawarai, Toshitaka; Kaji, Ryuji; Klein, Christine; Martemyanov, Kirill A; Schmidt, Alexander

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

耳语性发声障碍(DYT4 肌张力障碍)是由 TUBB4 基因突变引起的。

Lohmann, Katja; Wilcox, Robert A; Winkler, Susen; Ramirez, Alfredo; Rakovic, Aleksandar; Park, Jin-Sung; Arns, Björn; Lohnau, Thora; Groen, Justus; Kasten, Meike; Brüggemann, Norbert; Hagenah, Johann; Schmidt, Alexander; Kaiser, Frank J; Kumar, Kishore R; Zschiedrich, Katja; Alvarez-Fischer, Daniel; Altenmüller, Eckart; Ferbert, Andreas; Lang, Anthony E; Münchau, Alexander; Kostic, Vladimir; Simonyan, Kristina; Agzarian, Marc; Ozelius, Laurie J; Langeveld, Antonius P M; Sue, Carolyn M; Tijssen, Marina A J; Klein, Christine

Identification and functional analysis of novel THAP1 mutations

新型THAP1突变的鉴定和功能分析

Lohmann, Katja; Uflacker, Nils; Erogullari, Alev; Lohnau, Thora; Winkler, Susen; Dendorfer, Andreas; Schneider, Susanne A; Osmanovic, Alma; Svetel, Marina; Ferbert, Andreas; Zittel, Simone; Kühn, Andrea A; Schmidt, Alexander; Altenmüller, Eckart; Münchau, Alexander; Kamm, Christoph; Wittstock, Matthias; Kupsch, Andreas; Moro, Elena; Volkmann, Jens; Kostic, Vladimir; Kaiser, Frank J; Klein, Christine; Brüggemann, Norbert

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)

肌张力障碍基因 DYT1 受到转录因子 THAP1(DYT6)的抑制

Frank J Kaiser, Alma Osmanoric, Aleksandar Rakovic, Alev Erogullari, Nils Uflacker, Diana Braunholz, Thora Lohnau, Slobodanka Orolicki, Melanie Albrecht, Gabriele Gillessen-Kaesbach, Christine Klein, Katja Lohmann