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

Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort

髓鞘蛋白零突变相关遗传性神经病:来自新的神经活检队列的神经病理学见解

Bremer, Juliane; Meinhardt, Axel; Katona, Istvan; Senderek, Jan; Kämmerer-Gassler, Elke K; Roos, Andreas; Ferbert, Andreas; Schröder, J Michael; Nikolin, Stefan; Nolte, Kay; Sellhaus, Bernd; Popzhelyazkova, Klimentina; Tacke, Frank; Schara-Schmidt, Ulrike; Neuen-Jacob, Eva; de Groote, Chantal Ceuterick; de Jonghe, Peter; Timmerman, Vincent; Baets, Jonathan; Weis, Joachim

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors

脑海绵状畸形的突变检测率高,纳入标准严格:三分之一的病患为未成年人

Stefanie Spiegler, Juliane Najm, Jian Liu, Stephanie Gkalympoudis, Winnie Schröder, Guntram Borck, Knut Brockmann, Miriam Elbracht, Christine Fauth, Andreas Ferbert, Leonie Freudenberg, Ute Grasshoff, Yorck Hellenbroich, Wolfram Henn, Sabine Hoffjan, Irina Hüning, G Christoph Korenke, Peter M Kroise