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

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异会导致X连锁痉挛性共济失调。

Menden, Benita; Incebacak Eltemur, Rana D; Demidov, German; Sturm, Marc; Park, Joohyun; Huridou, Chrisovalantou; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J; Dufke, Claudia; Regensburger, Martin; Rönnefarth, Maria; Wilke, Vera; van Os, Nienke; Vielhaber, Stefan; Rattay, Tim W; Kohl, Zacharias; Peralta, Susana; Pereira Sena, Priscila; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon; Gross, Caspar; Hinojosa Amaya, Ana Beatriz; Raupach, Katrin; Hengel, Holger; Harmuth, Florian; Admard, Jakob; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut; Boschann, Felix; Buchert, Rebecca; Buchzik, Daniel; Casadei, Nicolas; Catarino, Claudia B; Cordts, Isabell; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja; Elbracht, Miriam; Falb, Ruth J; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander; Haaga, Manja; Hayer, Stefanie; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah; Kotzaeridou, Urania; Krawitz, Peter; Kreiss, Martina; Küpper, Hanna; Kuster, Alice; Laugwitz, Lucia; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris; Magg, Janine; Mangold, Elisabeth; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G; Philipp, Melanie; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel; Schwaibold, Eva M C; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas; Tzschach, Andreas; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan; Zittel, Simone; Husain, Ralf A; Deschauer, Marcus; Distelmaier, Felix; Dufke, Andreas; Graessner, Holm; Hemmer, Bernhard; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor; Kurth, Ingo; Nguyen, Huu Phuc; Wunderlich, Gilbert; Zeuner, Kirsten E; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen; Timmann, Dagmar; Synofzik, Matthis; van de Warrenburg, Bart; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan; Riess, Olaf; Weber, Jonasz J; Haack, Tobias B

Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment

脊髓小脑性共济失调3型脑萎缩分期在临床预后和临床试验筛选中的应用

Baumeister, Hannah; Wegner, Philipp; Ferreira, Mónica; Schaprian, Tamara; França, Marcondes C Jr; Rezende, Thiago Junqueira Ribeiro; Muro Martinez, Alberto Rolim; Jiang, Hong; Chen, Zhao; Weihua, Liao; Grobe-Einsler, Marcus; Koyak, Berkan; Önder, Demet; van de Warrenburg, Bart; van Gaalen, Judith; Durr, Alexandra; Coarelli, Giulia; Synofzik, Matthis; Schöls, Ludger; Giunti, Paola; Garcia-Moreno, Hector; Öz, Gülin; Joers, James; Timmann, Dagmar; Thieme, Andreas G; Jacobi, Heike; de Vries, Jeroen; Barker, Peter; Onyike, Chiadikaobi; Ratai, Eva-Maria; Schmahmann, Jeremy D; Reetz, Kathrin; Infante, Jon; Huebener-Schmid, Jeannette; Kuegler, David; Klockgether, Thomas; Berron, David; Faber, Jennifer

The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study

小脑认知情感综合征量表揭示了夏洛瓦-萨格奈常染色体隐性遗传痉挛性共济失调患者持续、早期且进行性的神经心理缺陷:一项大型国际横断面研究

Fortin, Julie; Synofzik, Matthis; Pedneault-Tremblay, Élyse-Anne; Hermle, Dominik; Thieme, Andreas; Timmann, Dagmar; La Piana, Roberta; Brais, Bernard; Dolbec, Justine; Côté, Isabelle; Gagnon, Cynthia; Traschütz, Andreas

Automated Deep Learning-based Segmentation of the Dentate Nucleus Using Quantitative Susceptibility Mapping MRI

基于定量磁化率成像的深度学习自动齿状核分割

Shiraishi, Diogo H; Saha, Susmita; Adanyeguh, Isaac M; Cocozza, Sirio; Corben, Louise A; Deistung, Andreas; Delatycki, Martin B; Dogan, Imis; Gaetz, William; Georgiou-Karistianis, Nellie; Graf, Simon; Grisoli, Marina; Henry, Pierre-Gilles; Jarola, Gustavo M; Joers, James M; Langkammer, Christian; Lenglet, Christophe; Li, Jiakun; Lobo, Camila C; Lock, Eric F; Lynch, David R; Mareci, Thomas H; Martinez, Alberto R M; Monti, Serena; Nigri, Anna; Pandolfo, Massimo; Reetz, Kathrin; Roberts, Timothy P; Romanzetti, Sandro; Rudko, David A; Scaravilli, Alessandra; Schulz, Jörg B; Subramony, S H; Timmann, Dagmar; França, Marcondes C; Harding, Ian H; Rezende, Thiago J R

A Photocatalytic Approach to Radical 1-(Trifluoromethyl)cyclopropanation

光催化法制备自由基1-(三氟甲基)环丙烷化反应

Timmann, Sven; Dilchert, Moritz T H; Dietzel, Jörg; Pöltl, Verena S; Wennekamp, Marc R; Golz, Christopher; Alcarazo, Manuel

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism

RAB3A杂合变异通过部分功能丧失机制导致小脑共济失调。

Hengel, Holger; Hannan, Shabab B; Reich, Selina; Beijer, Danique; Roller, Johanna; Gilsbach, Bernd K; Gloeckner, Christian Johannes; Greene, Daniel; Timmann, Dagmar; Depienne, Christel; Mumford, Andrew; O'Driscoll, Mary; Nemeth, Andrea H; Lundberg, Julie; Rodan, Lance H; Bruel, Ange-Line; Delanne, Julian; Deconinck, Tine; Baets, Jonathan; Gan-Or, Ziv; Rouleau, Guy; Suchowersky, Oksana; Estiar, Mehrdad A; Reich, Stephen; Toro, Camilo; Züchner, Stephan; Hazan, Jamilé; Pétursson, Hjörvar; Harmuth, Florian; Bauer, Claudia; Bauer, Peter; Turro, Ernest; Lambright, David; Schöls, Ludger; Synofzik, Matthis

The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort

散发性成人起病退行性共济失调的遗传图谱:来自纵向多中心 SPORTAX 队列的 377 例连续患者的多模式遗传学研究

Beijer, Danique; Mengel, David; Önder, Demet; Wilke, Carlo; Traschütz, Andreas; Faber, Jennifer; Timmann, Dagmar; Boesch, Sylvia; Vielhaber, Stefan; Klopstock, Thomas; van de Warrenburg, Bart P; Silvestri, Gabriella; Kamm, Christoph; Wedding, Iselin Marie; Fleszar, Zofia; Harmuth, Florian; Dufke, Claudia; Brais, Bernard; Rieß, Olaf; Schöls, Ludger; Haack, Tobias; Züchner, Stephan; Pellerin, David; Klockgether, Thomas; Synofzik, Matthis

The Pattern and Stages of Atrophy in Spinocerebellar Ataxia Type 2: Volumetrics from ENIGMA-Ataxia

脊髓小脑性共济失调2型的萎缩模式和阶段:基于ENIGMA-Ataxia的体积测量

Robertson, Jason W; Adanyeguh, Isaac; Bender, Benjamin; Boesch, Sylvia; Brunetti, Arturo; Cocozza, Sirio; Coutinho, Léo; Deistung, Andreas; Diciotti, Stefano; Dogan, Imis; Durr, Alexandra; Fernandez-Ruiz, Juan; Göricke, Sophia L; Grisoli, Marina; Han, Shuo; Mariotti, Caterina; Marzi, Chiara; Mascalchi, Mario; Mochel, Fanny; Nachbauer, Wolfgang; Nanetti, Lorenzo; Nigri, Anna; Ono, Sergio E; Onyike, Chiadi U; Prince, Jerry L; Reetz, Kathrin; Romanzetti, Sandro; Saccà, Francesco; Synofzik, Matthis; Teive, Hélio A Ghizoni; Thomopoulos, Sophia I; Thompson, Paul M; Timmann, Dagmar; Ying, Sarah H; Harding, Ian H; Hernandez-Castillo, Carlos R

Optimizing selectivity of the Cerebellar Cognitive Affective Syndrome Scale by use of correction formulas, and validation of its German version

利用校正公式优化小脑认知情感综合征量表的选择性,并验证其德语版本

Thieme, Andreas; Rubarth, Kerstin; van der Veen, Raquel; Müller, Johanna; Faber, Jennifer; Barkhoff, Miriam; Minnerop, Martina; Elben, Saskia; Huvermann, Dana; Erdlenbruch, Friedrich; Berlijn, Adam M; Sulzer, Patricia; Reetz, Kathrin; Dogan, Imis; Jacobi, Heike; Aktories, Julia-Elisabeth; Batsikadze, Giorgi; Liu, Qi; Frank, Benedikt; Köhrmann, Martin; Wondzinski, Elke; Siebler, Mario; Konczak, Jürgen; Synofzik, Matthis; Klockgether, Thomas; Konietschke, Frank; Röske, Sandra; Timmann, Dagmar

Evidence for lateralization of fear emotions in the cerebellum

小脑中恐惧情绪侧化的证据

Pakusch, Johanna; Nio, Enzo; Grosch, Thomas; Ernst, Thomas M; Batsikadze, Giorgi; Güntürkün, Onur; Timmann, Dagmar; Mark, Melanie D