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

Mitofusin MFN2 acts as a molecular sensor preventing protein aggregation and mitophagy, with a protective effect against apoptosis in Charcot-Marie-Tooth type 2A disease

线粒体融合蛋白MFN2作为一种分子传感器,可防止蛋白质聚集和线粒体自噬,从而对夏科-马里-图斯病2A型中的细胞凋亡具有保护作用。

Joaquim, Mariana; Dohrn, Maike F; Chevrollier, Arnaud; Escobar-Henriques, Mafalda

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe

欧洲BAG3相关神经肌肉疾病患者的疾病谱和长期预后

Fernández-Eulate, Gorka; Gitiaux, Cyril; Thiele, Simone; Jungbluth, Heinz; Potulska-Chromik, Anna; Marini-Bettolo, Chiara; Davion, Jean Baptiste; Morís, Germán; Gallardo, Eduard; Olivé, Montse; de Fuenmayor-Fernández de la Hoz, Carlos Pablo; Audic, Frederique; Isapof, Arnaud; Walter, Maggie C; Angelini, Corrado; Bertini, Enrico; Schara-Schmidt, Ulrike; Claeys, Kristl G; Dohrn, Maike F; Dembele, Mohamed; Fer, Frédéric; Brochier, Guy; Evangelista, Teresinha; Kostera-Pruszczyk, Anna; Attarian, Shahram; Straub, Volker; Domínguez-González, Cristina; Vissing, John; Richard, Pascale; Metay, Corinne; Khraiche, Diala; Wahbi, Karim; Stojkovic, Tanya

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由SORD基因突变引起的夏科-马里-图斯病的基因型和表型谱

Cortese, Andrea; Dohrn, Maike F; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J; Fernandez-Eulate, Gorka; Haddad, Saif; Laurà, Matilde; Rossor, Alexander M; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F; Achenbach, Pascal; Schöne, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D; Winter, Natalie; Creigh, Peter D; Sowden, Janet E; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K L; Brennan, Kathryn M; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R; Kennerson, Marina L; Kayserili, Hülya; Amado, Defne A; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C; Yi-Chung, Lee; Başak, Ayşe N; Hamed, Sherifa A; Rojas-Garcia, Ricardo; Claeys, Kristl G; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N; Scherer, Steven S; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M; Shy, Michael E; Züchner, Stephan

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

ITPR3 中的一种复发性错义变异会导致脱髓鞘性夏科-马里-图斯病,严重程度不一

Beijer Danique, Dohrn Maike F, Rebelo Adriana, Danzi Matt C, Grosz Bianca Rose, Ellis Melina, Kumar Kishore R, Vucic Steve, Vais Horia, Weissenrieder Jillian S, Lunko Olesia, Paudel Usha, Simpson Leah C, Camarena Vladimir, Raposo Jacquelyn, Saporta Mario, Arcia Yeisha, Xu Isaac, Feely Shawna, Record Christopher J, Blake Julian, Reilly Mary M, Scherer Steven S, Kennerson Marina, Lee Yi-Chung, Foskett J Kevin, Shy Michael E, Zuchner Stephan

Tear fluid calcitonin gene-related peptide (CGRP) is elevated during spontaneous migraine attacks - results from a pilot study

一项初步研究结果显示,自发性偏头痛发作期间泪液中降钙素基因相关肽(CGRP)水平升高。

Kamm, Katharina; Brandi-Dohrn, Annika; Straube, Andreas; Förderreuther, Stefanie; Ruscheweyh, Ruth

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

利用全基因组方法在未确诊疾病网络队列中发现新的重复序列扩增疾病

Fazal, Sarah; Dashnow, Harriet; Dohrn, Maike F; Raposo, Jacquelyn; Hiatt, Laurel; Danzi, Matt C; Xu, Isaac R L; Toro, Camilo; Adams, David R; Usdin, Karen; Hayward, Bruce; Kobren, Shilpa Nadimpalli; Sunyaev, Shamil R; Spillmann, Rebecca C; Shashi, Vandana; Rebelo, Adriana; Bademci, Guney; Tekin, Mustafa; Quinlan, Aaron R; Zuchner, Stephan

A new screening tool for early recognition of ATTRv polyneuropathy in clinical practice: AmyloScan(®)

一种用于临床实践中早期识别 ATTRv 多发性神经病的新型筛查工具:AmyloScan(®)

Sachau, Juliane; Rhode, Lena; Dohrn, Maike F; Vollert, Jan; Rehm, Stefanie; Sendel, Manon; Hahn, Katrin; Hansen, Timon; Gingele, Stefan; Skripuletz, Thomas; Stürner, Klarissa; Enax-Krumova, Elena; Baron, Ralf

Polyneuropathy in hereditary and wildtype transthyretin amyloidosis, comparison of key clinical features and red flags

遗传性和野生型转甲状腺素蛋白淀粉样变性中的多发性神经病变:关键临床特征和危险信号的比较

Siemer, Janna M; Grote-Levi, Lea; Hänselmann, Anja; Sassmann, Mieke L; Nay, Sandra; Ratuszny, Dominica; Körner, Sonja; Seeliger, Tabea; Hümmert, Martin W; Dohrn, Maike F; Huss, André; Tumani, Hayrettin; Gödecke, Vega; Heuser, Michael; Bauersachs, Johann; Bavendiek, Udo; Skripuletz, Thomas; Gingele, Stefan

Painful stimulation increases functional connectivity between supplementary motor area and thalamus in patients with small fibre neuropathy

疼痛刺激可增强小纤维神经病患者的辅助运动区与丘脑之间的功能连接。

Scheliga, Sebastian; Dohrn, Maike F; Kellermann, Thilo; Lampert, Angelika; Rolke, Roman; Namer, Barbara; Peschke, Greta Z; van den Braak, Nortje; Lischka, Annette; Spehr, Marc; Jo, Han-Gue; Habel, Ute

Nitrous oxide use and psychiatric disorders: a retrospective clinical cohort study on prevalence and patterns

一氧化二氮使用与精神疾病:一项关于患病率和模式的回顾性临床队列研究

Paetow, Rebecca; Dohrn, Maike Franziska; Finner-Prével, Michelle; Boesehans, Leona; Henning, Dariush; Rust, Marcus; Frodl, Thomas