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

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing

肌张力障碍的遗传多样性和扩展表型:来自大规模外显子组测序的启示

Thomsen, Mirja; Ott, Fabian; Loens, Sebastian; Kilic-Berkmen, Gamze; Tan, Ai Huey; Lim, Shen-Yang; Lohmann, Ebba; Schröder, Kaja M; Ipsen, Lea; Nothacker, Lena A; Welzel, Linn; Rudnik, Alexandra S; Hinrichs, Frauke; Odorfer, Thorsten; Zeuner, Kirsten E; Schumann, Friederike; Kühn, Andrea A; Zittel, Simone; Moeller, Marius; Pfister, Robert; Kamm, Christoph; Lang, Anthony E; Tay, Yi Wen; de Almeida Marcelino, Ana Luísa; Vidailhet, Marie; Roze, Emmanuel; Perlmutter, Joel S; Feuerstein, Jeanne S; Fung, Victor S C; Chang, Florence; Barbano, Richard L; Bellows, Steven; Wagle Shukla, Aparna A; Espay, Alberto J; LeDoux, Mark S; Berman, Brian D; Reich, Stephen; Deik, Andres; Franke, Andre; Wittig, Michael; Franzenburg, Sören; Volkmann, Jens; Brüggemann, Norbert; Jinnah, H A; Bäumer, Tobias; Klein, Christine; Busch, Hauke; Lohmann, Katja

FBXO7 Pathogenic Variants in Early-Onset Parkinsonism: Insights from a Neuroimaging Perspective and Review of the Literature

FBXO7致病变异与早发性帕金森病:神经影像学视角及文献综述

Şahin, Erdi; Samanci, Bedia; Yalçın Çakmaklı, Gül; Lohmann, Ebba; Güven, Gamze; Gökalp, Ebru Erzurumluoğlu; Gündüz, Ayşegül; Başak, Ayşe Nazlı; Ertan, Sibel; Elibol, Bülent; Bilgiç, Başar; Hanağası, Haşmet

A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors

对超过7000人生物体液中前粒蛋白浓度进行系统性回顾——评估GRN基因突变的致病性及其他影响因素

Swift, Imogen J; Rademakers, Rosa; Finch, NiCole; Baker, Matt; Ghidoni, Roberta; Benussi, Luisa; Binetti, Giuliano; Rossi, Giacomina; Synofzik, Matthis; Wilke, Carlo; Mengel, David; Graff, Caroline; Takada, Leonel T; Sánchez-Valle, Raquel; Antonell, Anna; Galimberti, Daniela; Fenoglio, Chiara; Serpente, Maria; Arcaro, Marina; Schreiber, Stefanie; Vielhaber, Stefan; Arndt, Philipp; Santana, Isabel; Almeida, Maria Rosario; Moreno, Fermín; Barandiaran, Myriam; Gabilondo, Alazne; Stubert, Johannes; Gómez-Tortosa, Estrella; Agüero, Pablo; Sainz, M José; Gohda, Tomohito; Murakoshi, Maki; Kamei, Nozomu; Kittel-Schneider, Sarah; Reif, Andreas; Weigl, Johannes; Jian, Jinlong; Liu, Chuanju; Serrero, Ginette; Greither, Thomas; Theil, Gerit; Lohmann, Ebba; Gazzina, Stefano; Bagnoli, Silvia; Coppola, Giovanni; Bruni, Amalia; Quante, Mirja; Kiess, Wieland; Hiemisch, Andreas; Jurkutat, Anne; Block, Matthew S; Carlson, Aaron M; Bråthen, Geir; Sando, Sigrid Botne; Grøntvedt, Gøril Rolfseng; Lauridsen, Camilla; Heslegrave, Amanda; Heller, Carolin; Abel, Emily; Gómez-Núñez, Alba; Puey, Roger; Arighi, Andrea; Rotondo, Enmanuela; Jiskoot, Lize C; Meeter, Lieke H H; Durães, João; Lima, Marisa; Tábuas-Pereira, Miguel; Lemos, João; Boeve, Bradley; Petersen, Ronald C; Dickson, Dennis W; Graff-Radford, Neill R; LeBer, Isabelle; Sellami, Leila; Lamari, Foudil; Clot, Fabienne; Borroni, Barbara; Cantoni, Valentina; Rivolta, Jasmine; Lleó, Alberto; Fortea, Juan; Alcolea, Daniel; Illán-Gala, Ignacio; Andres-Cerezo, Lucie; Van Damme, Philip; Clarimon, Jordi; Steinacker, Petra; Feneberg, Emily; Otto, Markus; van der Ende, Emma L; van Swieten, John C; Seelaar, Harro; Zetterberg, Henrik; Sogorb-Esteve, Aitana; Rohrer, Jonathan D

Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies

孤立性肌张力障碍的遗传风险因素逃逸全基因组关联研究

Laabs, Björn-Hergen; Lohmann, Katja; Vollstedt, Eva-Juliane; Reinberger, Tobias; Nuxoll, Lisa-Marie; Kilic-Berkmen, Gamze; Perlmutter, Joel S; Loens, Sebastian; Cruchaga, Carlos; Franke, Andre; Dobricic, Valerija; Hinrichs, Frauke; Grözinger, Anne; Altenmüller, Eckart; Bellows, Steven; Boesch, Sylvia; Bressman, Susan B; Duque, Kevin R; Espay, Alberto J; Ferbert, Andreas; Feuerstein, Jeanne S; Frank, Samuel; Gasser, Thomas; Haslinger, Bernhard; Jech, Robert; Kaiser, Frank; Kamm, Christoph; Kollewe, Katja; Kühn, Andrea A; LeDoux, Mark S; Lohmann, Ebba; Mahajan, Abhimanyu; Münchau, Alexander; Multhaupt-Buell, Trisha; Pantelyat, Alexander; Pirio Richardson, Sarah E; Raymond, Deborah; Reich, Stephen G; Saunders Pullman, Rachel; Schormair, Barbara; Sharma, Nutan; Sichani, Azadeh Hamzehei; Simonyan, Kristina; Volkmann, Jens; Wagle Shukla, Aparna; Winkelmann, Juliane; Wright, Laura J; Zech, Michael; Zeuner, Kirsten E; Zittel, Simone; Kasten, Meike; Sun, Yan V; Bäumer, Tobias; Brüggemann, Norbert; Ozelius, Laurie J; Jinnah, Hyder A; Klein, Christine; König, Inke R

Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights

剖析罕见肌张力障碍的遗传结构:遗传学、分子生物学和临床见解

Atasu, Burcu; Simón-Sánchez, Javier; Hanagasi, Hasmet; Bilgic, Basar; Hauser, Ann-Kathrin; Guven, Gamze; Heutink, Peter; Gasser, Thomas; Lohmann, Ebba

Pallidal Deep Brain Stimulation Improves HPCA-Linked (DYT 2) Dystonia

苍白球深部脑刺激可改善下丘脑-垂体-肾上腺轴相关(DYT 2)肌张力障碍

Samanci, Bedia; Şahin, Erdi; Samanci, Yavuz; Bilgiç, Başar; Atasu, Burcu; Lohmann, Ebba; Peker, Selçuk; Hanağası, Haşmet A

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing

肌张力障碍的遗传多样性和扩展表型:来自大规模外显子组测序的启示

Thomsen, Mirja; Ott, Fabian; Loens, Sebastian; Kilic-Berkmen, Gamze; Tan, Ai Huey; Lim, Shen-Yang; Lohmann, Ebba; Schröder, Kaja M; Ipsen, Lea; Nothacker, Lena A; Welzel, Linn; Rudnik, Alexandra S; Hinrichs, Frauke; Odorfer, Thorsten; Zeuner, Kirsten E; Schumann, Friederike; Kühn, Andrea A; Zittel, Simone; Moeller, Marius; Pfister, Robert; Kamm, Christoph; Lang, Anthony E; Tay, Yi Wen; Vidailhet, Marie; Roze, Emmanuel; Perlmutter, Joel S; Feuerstein, Jeanne S; Fung, Victor S C; Chang, Florence; Barbano, Richard L; Bellows, Steven; Shukla, Aparna A Wagle; Espay, Alberto J; LeDoux, Mark S; Berman, Brian D; Reich, Stephen; Deik, Andres; Franke, Andre; Wittig, Michael; Franzenburg, Sören; Volkmann, Jens; Brüggemann, Norbert; Jinnah, H A; Bäumer, Tobias; Klein, Christine; Busch, Hauke; Lohmann, Katja

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

携带KCNC2致病变异的癫痫患者的表型、遗传和功能特征谱

Schwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brünger, Tobias; Hedrich, Ulrike B S; Augustijn, Paul B; Baier, Hartmut; Bayat, Allan; Bisulli, Francesca; Buono, Russell J; Bruria, Ben Zeev; Doyle, Michael G; Guerrini, Renzo; Heimer, Gali; Iacomino, Michele; Kearney, Hugh; Klein, Karl Martin; Kousiappa, Ioanna; Kunz, Wolfram S; Lerche, Holger; Licchetta, Laura; Lohmann, Ebba; Minardi, Raffaella; McDonald, Marie; Montgomery, Sarah; Mulahasanovic, Lejla; Oegema, Renske; Ortal, Barel; Papacostas, Savvas S; Ragona, Francesca; Granata, Tiziana; Reif, Phillip S; Rosenow, Felix; Rothschild, Annick; Scudieri, Paolo; Striano, Pasquale; Tinuper, Paolo; Tanteles, George A; Vetro, Annalisa; Zahnert, Felix; Goldberg, Ethan M; Zara, Federico; Lal, Dennis; May, Patrick; Muhle, Hiltrud; Helbig, Ingo; Weber, Yvonne

Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review

SCARB2相关临床表现的基因型-表型相关性:病例报告及深入文献综述

Atasu, Burcu; Acarlı, Ayse Nur Ozdag; Bilgic, Basar; Baykan, Betül; Demir, Erol; Ozluk, Yasemin; Turkmen, Aydin; Hauser, Ann-Kathrin; Guven, Gamze; Hanagasi, Hasmet; Gurvit, Hakan; Emre, Murat; Gasser, Thomas; Lohmann, Ebba

A comprehensive analysis of copy number variation in a Turkish dementia cohort

对土耳其痴呆症患者群体拷贝数变异的全面分析

Dehghani, Nadia; Guven, Gamze; Kun-Rodrigues, Celia; Gouveia, Catarina; Foster, Kalina; Hanagasi, Hasmet; Lohmann, Ebba; Samanci, Bedia; Gurvit, Hakan; Bilgic, Basar; Bras, Jose; Guerreiro, Rita