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

Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)

CSF1R 中的新变异与成人发病的轴突球体和色素胶质细胞白质脑病 (ALSP) 有关

Anne S Schmitz, Janani Raju, Wolfgang Köhler, Stephan Klebe, Khaled Cheheb, Franziska Reschke, Saskia Biskup, Tobias B Haack, Benjamin Roeben, Melanie Kellner, Nils Rahner, Thomas Bloch, Johannes Lemke, Benjamin Bender, Ludger Schöls, Holger Hengel, Stefanie N Hayer

Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11

临床批准的免疫调节剂可改善 11 型遗传性痉挛性截瘫小鼠模型的行为变化

Michaela Hörner, Sandy Popp, Julien Branchu, Giovanni Stevanin, Frédéric Darios, Stephan Klebe, Janos Groh, Rudolf Martini

TDP-43 as structure-based biomarker in amyotrophic lateral sclerosis

TDP-43 作为肌萎缩侧索硬化症的结构生物标志物

Léon Beyer, René Günther, Jan Christoph Koch, Stephan Klebe, Tim Hagenacker, Paul Lingor, Anne-Sophie Biesalski, Andreas Hermann, Andreas Nabers, Ralf Gold, Lars Tönges, Klaus Gerwert

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

MARCH6 中不稳定的 TTTTA/TTTCA 扩增与家族性成人肌阵挛性癫痫 3 型有关

Rahel T Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylv

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

KIAA0196 变体谱及小鼠敲除的特征:对遗传性痉挛性截瘫 SPG8 型突变机制的影响

Amir Jahic, Mukhran Khundadze, Nadine Jaenisch, Rebecca Schüle, Sven Klimpe, Stephan Klebe, Christiane Frahm, Jan Kassubek, Giovanni Stevanin, Ludger Schöls, Alexis Brice, Christian A Hübner, Christian Beetz