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

Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study

轻度至中度弗里德赖希共济失调患者的患者报告心理社会和健康经济学结果:PROFA 研究的基线结果

Grobe-Einsler, Marcus; Borel, Stéphanie; Buchholz, Maresa; Sayah, Sabrina; Hilab, Rania; Pierron, Lucie; Iskandar, Audrey; Humphries, Brittany; Ewenczyk, Claire; Heinzmann, Anna; Atencio, Mariana; Feldmann, Katrin; Maas, Vivian; Faber, Jennifer; Boesch, Sylvia; Indelicato, Elisabetta; Reetz, Kathrin; Schulz, Jörg B; Bischoff, Almut T; Klopstock, Thomas; Schöls, Ludger; Minnerop, Martina; Timmann, Dagmar; Davies, Elin H; Klockgether, Thomas; Durr, Alexandra; Xie, Feng; Michalowsky, Bernhard

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

Piezoelectric properties of PVDF/PLA blends prepared by melt processing and electrospinning

熔融加工和静电纺丝制备的PVDF/PLA共混物的压电性能

Estiar, Mehrdad A; Yu, Eric; Varghaei, Parizad; Ross, Jay P; Ashtiani, Setareh; Bayne, Andrew N; Coarelli, Giulia; Timmann, Dagmar; Klockgether, Thomas; Beijer, Danique; Mengel, David; Coutelier, Marie; Dion, Patrick A; Suchowersky, Oksana; Ewenczyk, Claire; Goizet, Cyril; Stevanin, Giovanni; Van Damme, Philip; Al-Chalabi, Ammar; Zuchner, Stephan; Synofzik, Matthis; Veldink, Jan H; Trempe, Jean-Francois; Durr, Alexandra; Rouleau, Guy A; Gan-Or, Ziv; Ngowi, Nina Sandra Natasha; Ufitinema, Pacifique; Qambayot, Maria Albin; Schurer, Janna M; Melin, Chloé; Capsal, Jean-Fabien; Zednik, Ricardo; Pommella, Angelo; Demarquette, Nicole; Chenal, Jean-Marc

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

Functional connectivity-based attractor dynamics of the human brain in rest, task, and disease

基于功能连接的人类大脑在静息、任务和疾病状态下的吸引子动力学

Englert, Robert; Kincses, Balint; Kotikalapudi, Raviteja; Gallitto, Giuseppe; Li, Jialin; Hoffschlag, Kevin; Woo, Choong-Wan; Wager, Tor D; Timmann, Dagmar; Bingel, Ulrike; Spisak, Tamas

Volumetric signatures of basal ganglia-thalamo-cortical and cerebello-thalamo-cortical networks in Parkinson's disease and its motor subtypes

帕金森病及其运动亚型中基底神经节-丘脑-皮质网络和小脑-丘脑-皮质网络的体积特征

Sadeghi, Fatemeh; Okar, Abdullah; Rashedi, Ronak; Gerloff, Christian; Timmann, Dagmar; Schulz, Robert; Zittel, Simone

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

Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective 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队列前瞻性数据的纵向分析

Berger, Moritz; Garcia-Moreno, Hector; Ferreira, Mónica; Hubener-Schmid, Jeannette; Schaprian, Tamara; Wegner, Philipp; Elter, Tim; Teichmann, Kennet M; Santana, Magda M; Grobe-Einsler, Marcus; Oender, Demet; Koyak, Berkan S C; Bernsen, Sarah; Pereira de Almeida, Luís; 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-Negro, Ana L; Manrique, Leire; Reetz, Kathrin; Dogan, Imis; Oz, Gulin; Joers, James M; Bushara, Khalafalla; Onyike, Chiadikaobi; Povazan, Michal; Jacobi, Heike; Schmahmann, Jeremy D; Ratai, Eva-Maria; Schmid, Matthias; Giunti, Paola; Klockgether, Thomas; Faber, Jennifer

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