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

Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4

血清神经丝轻链作为遗传性痉挛性截瘫4型生物标志物的特征

Kessler, Christoph; Serna-Higuita, Lina Maria; Wilke, Carlo; Rattay, Tim W; Hengel, Holger; Reichbauer, Jennifer; Stransky, Elke; Leyva-Gutiérrez, Alejandra; Mengel, David; Synofzik, Matthis; Schöls, Ludger; Martus, Peter; Schüle, Rebecca

Solving unsolved rare neurological diseases-a Solve-RD viewpoint

解决尚未攻克的罕见神经系统疾病——Solve-RD 的观点

Schüle, Rebecca; Timmann, Dagmar; Erasmus, Corrie E; Reichbauer, Jennifer; Wayand, Melanie; van de Warrenburg, Bart; Schöls, Ludger; Wilke, Carlo; Bevot, Andrea; Zuchner, Stephan; Beltran, Sergi; Laurie, Steven; Matalonga, Leslie; Graessner, Holm; Synofzik, Matthis

Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint

更正:解决未解罕见神经系统疾病——Solve-RD 的观点

Schüle, Rebecca; Timmann, Dagmar; Erasmus, Corrie E; Reichbauer, Jennifer; Wayand, Melanie; van de Warrenburg, Bart; Schöls, Ludger; Wilke, Carlo; Bevot, Andrea; Zuchner, Stephan; Beltran, Sergi; Laurie, Steven; Matalonga, Leslie; Graessner, Holm; Synofzik, Matthis

Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia

神经丝轻链是遗传性痉挛性截瘫的脑脊液生物标志物

Kessler, Christoph; Serna-Higuita, Lina M; Rattay, Tim W; Maetzler, Walter; Wurster, Isabel; Hayer, Stefanie; Wilke, Carlo; Hengel, Holger; Reichbauer, Jennifer; Armbruster, Marcel; Schöls, Ludger; Martus, Peter; Schüle, Rebecca

Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

艾卡迪-古蒂埃综合征是由父系嵌合型 IFIH1 突变引起的

Tüngler, Victoria; Doebler-Neumann, Marion; Salandin, Michaela; Kaufmann, Peter; Wolf, Christine; Lucas, Nadja; Harmuth, Florian; Reichbauer, Jennifer; Krägeloh-Mann, Ingeborg; Schüle, Rebecca; Lee-Kirsch, Min Ae

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

FAHN/SPG35:疾病分类中表型谱较窄

Rattay, Tim W; Lindig, Tobias; Baets, Jonathan; Smets, Katrien; Deconinck, Tine; Söhn, Anne S; Hörtnagel, Konstanze; Eckstein, Kathrin N; Wiethoff, Sarah; Reichbauer, Jennifer; Döbler-Neumann, Marion; Krägeloh-Mann, Ingeborg; Auer-Grumbach, Michaela; Plecko, Barbara; Münchau, Alexander; Wilken, Bernd; Janauschek, Marc; Giese, Anne-Katrin; De Bleecker, Jan L; Ortibus, Els; Debyser, Martine; Lopez de Munain, Adolfo; Pujol, Aurora; Bassi, Maria Teresa; D'Angelo, Maria Grazia; De Jonghe, Peter; Züchner, Stephan; Bauer, Peter; Schöls, Ludger; Schüle, Rebecca

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

ATP13A2/PARK9 基因的功能丧失突变导致复杂的遗传性痉挛性截瘫 (SPG78)

Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke, Dae-In Chang, Sarah van Veen, Jean Samuel, Ludger Schöls, Thorsten Pöppel, Danny Mollerup Sørensen, Bob Asselbergh, Christine Klein, Stephan

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

POLR3A 的次等位基因突变是散发性和隐性痉挛性共济失调的常见原因

Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Syn

Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias

通过全外显子组测序确定一系列罕见运动神经元疾病和共济失调中的单亲二体性

Bis, Dana M; Schüle, Rebecca; Reichbauer, Jennifer; Synofzik, Matthis; Rattay, Tim W; Soehn, Anne; de Jonghe, Peter; Schöls, Ludger; Züchner, Stephan

Motor protein mutations cause a new form of hereditary spastic paraplegia

运动蛋白突变导致一种新型遗传性痉挛性截瘫

Andrés Caballero Oteyza, Esra Battaloğlu, Levent Ocek, Tobias Lindig, Jennifer Reichbauer, Adriana P Rebelo, Michael A Gonzalez, Yasar Zorlu, Burcak Ozes, Dagmar Timmann, Benjamin Bender, Günther Woehlke, Stephan Züchner, Ludger Schöls, Rebecca Schüle