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 Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort

ESMI队列中3型脊髓小脑性共济失调突变携带者的用药模式

Silva, Patrick; Costa, Marina A; Gaspar, Laetitia; Durães, João; Cunha, Inês; Ribeiro, Joana A; Januário, Cristina; Oliveiros, Bárbara; Hübener-Schmid, Jeannette; Faber, Jennifer; Raposo, Mafalda; Lima, Manuela; Garcia-Moreno, Hector; Giunti, Paola; Beichert, Lukas; Schöls, Ludger; van de Warrenburg, Bart P; de Vries, Jeroen; Thieme, Andreas; Reetz, Kathrin; Jacobi, Heike; Infante, Jon; Klockgether, Thomas; de Almeida, Luís Pereira; Santana, Magda M

How to improve statistical power in a trial with SCA2 patients using natural history data

如何利用自然史数据提高SCA2患者试验的统计效力

Tran, Maylis; Poulet, Pierre-Emmanuel; Petit, Emilien; Durr, Alexandra; Klockgether, Thomas; Ashizawa, Tetsuo; Coarelli, Giulia; du Montcel, Sophie Tezenas

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

作者更正:将新一代表型分析技术整合到国家层面的超罕见病患者诊疗框架中,可改进基因诊断并产生新的分子发现。

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M C; Schaaf, Christian P; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M; Kotzaeridou, Urania; Hoffmann, Georg F; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M; Haack, Tobias; Ehmke, Nadja; Wagner, Matias

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

Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis.

ATXN2 中间 CAG 重复序列、9bp 重复和选择性剪接对 SCA3 发病机制的影响

Lauerer Marilena, Faber Jennifer, Casadei Nicolas, Santana Magda M, Auburger Georg, Pogoda Michaela, Admard Jakob, Kaupp Lea, Kos Patricia Laura, Raposo Mafalda, Lima Manuela, de Almeida Luis Pereira, Garcia-Moreno Hector, Giunti Paola, de Vries Jeroen, van de Warrenburg Bart P, van Gaalen Judith, Grobe-Einsler Marcus, Koyak Berkan, Reetz Kathrin, Erdlenbruch Friedrich, Jacobi Heike, Infante Jon, Hengel Holger, Schöls Ludger, Klockgether Thomas, Rieß Olaf, Hübener-Schmid Jeannette

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

Longitudinal description of health-related quality of life and depressive symptoms in polyQ spinocerebellar ataxia patients

对多聚谷氨酰胺脊髓小脑性共济失调患者的健康相关生活质量和抑郁症状进行纵向描述

Iskandar, Audrey; Buchholz, Maresa; Blotenberg, Iris; Schmitz-Hübsch, Tanja; Faber, Jennifer; Jacobi, Heike; Xie, Feng; Grobe-Einsler, Marcus; Klockgether, Thomas; Michalowsky, Bernhard

Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort.

脊髓小脑性共济失调 3 型生物标志物的进展:ESMI 队列纵向数据分析

Berger Moritz, Garcia-Moreno Hector, Ferreira Monica, Hubener-Schmid Jeannette, Schaprian Tamara, Wegner Philipp, Elter Tim, Teichmann Kennet, Santana Magda M, Grobe-Einsler Marcus, Onder Demet, Koyak Berkan, Bernsen Sarah, de Almeida Luís Pereira, Silva Patrick, Ribeiro Joana Afonso, Cunha Inês, Gonzalez-Robles Cristina, Khan Shamsher, Heslegrave Amanda, Zetterberg Henrik, Lima Manuela, Raposo Mafalda, Ferreira Ana F, Vasconcelos João, van de Warrenburg Bart P, van Gaalen Judith, van Prooije Teije H, de Vries Jeroen, Schols Ludger, Riess Olaf, Synofzik Matthis, Timmann Dagmar, Thieme Andreas, Erdlenbruch Friedrich, Infante Jon, Pelayo Ana Lara, Manrique Leire, Reetz Kathrin, Dogan Imis, Oz Gulin, Joers James M, Bushara Khalaf, Onyike Chiadikaobi, Povazan Michal, Jacobi Heike, Schmahmann Jeremy D, Ratai Eva-Maria, Schmid Matthias, Giunti Paola, Klockgether Thomas, Faber Jennifer