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

Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease

罕见但重要?评估帕金森病中与肌张力障碍相关的基因变异

Lange, Lara M; Fang, Zih-Hua; Screven, Laurel; Tan, Ai Huey; Alcalay, Roy N; Amouri, Rim; Bovenzi, Roberta; Fenn, Matilda; Frost, Joshua L I; Jankovic, Joseph; Jasaityte, Simona; Jaunmuktane, Zane; Jeon, Beomseok; Sarmiento, Ignacio Juan Keller; Krüger, Rejko; Kuhlenbäumer, Gregor; Lin, Chin-Hsien; Pavelka, Lukas; Periñan, Maria Teresa; Sassi, Samia Ben; Schirinzi, Tommaso; Shin, Jung Hwan; Shulman, Joshua M; Tay, Yi Wen; Uitti, Ryan; Warner, Tom; Wszolek, Zbigniew K; Wu, Lesley; Wu, Ruey-Meei; Zeuner, Kirsten E; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolò E; Morris, Huw R; Lim, Shen-Yang; Lohmann, Katja; Klein, Christine

Preventing Parkinson's disease in the context of movement disorders: a narrative review of current evidence and future directions

在运动障碍的背景下预防帕金森病:现有证据与未来方向的叙述性综述

Schaeffer, Eva; Becktepe, Jos Steffen; Brockmann, Kathrin; Eggers, Carsten; Gülke, Eileen; Kalbe, Elke; Rattay, Tim W; Tönges, Lars; Warnecke, Tobias; Zeuner, Kirsten E; Berg, Daniela

Large-scale copy number variant analysis in genes linked to Parkinson´s disease

帕金森病相关基因的大规模拷贝数变异分析

Landoulsi, Zied; Lohmann, Katja; Vollstedt, Eva-Juliane; Wedgwood-Benn, Emily; Niestroj, Lisa-Marie; Laabs, Björn-Hergen; Sendel, Sebastian; Balck, Alexander; Borsche, Max; Lal, Dennis; Grünewald, Anne; Brüggemann, Norbert; Franke, Andre; Hicks, Andrew; Kasten, Meike; Zeuner, Kirsten E; Lange, Lara M; Lieb, Wolfgang; Mollenhauer, Brit; Pawlack, Heike; Pramstaller, Peter P; Caliebe, Amke; König, Inke R; May, Patrick; Klein, Christine

Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study

深部脑刺激治疗VPS16相关肌张力障碍:一项多中心研究

Svorenova, Tatiana; Romito, Luigi M; Kaymak, Ahmet; Mulroy, Eoin; Cif, Laura; Moro, Elena; Zeuner, Kirsten E; Zittel, Simone; Petry-Schmelzer, Jan Niklas; Gruber, Doreen; Centen, Liesanne; Albanese, Alberto; Ostrozovicova, Miriama; Han, Vladimir; Magocova, Veronika; Knorovsky, Kamil; Kollova, Aurelia; Garavaglia, Barbara; Golfrè-Andreasi, Nico; Reale, Chiara; Mazzoni, Alberto; Zorzi, Giovanna; Eleopra, Roberto; Levi, Vincenzo; Foltynie, Thomas; Limousin, Patricia; Akram, Harith; Zrinzo, Ludvic; Magrinelli, Francesca; Murphy, David; Houlden, Henry; Kurian, Manju A; Baiata, Claudio; Paschen, Steffen; Lohmann, Katja; Volkmann, Jens; Hamel, Wolfgang; Barbe, Michael T; van Egmond, Martje E; Tijssen, Maj; Ambro, Lubos; Jurkova, Veronika; Jech, Robert; Havrankova, Petra; Winkelmann, Juliane; Zech, Michael; Skorvanek, Matej

The ACCEPTance of automation: refining circulating tumor cells enumeration for improved metastatic colorectal cancer prognosis

自动化技术的接受:改进循环肿瘤细胞计数以提升转移性结直肠癌的预后

De Meo, Michela; Siringo, Marco; Vici, Alessandro; Zeuner, Ann; Gandini, Orietta; Gazzaniga, Paola; Nicolazzo, Chiara

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

Roles of human colonic bacteria in pectin utilization and associated cross-feeding networks revealed using synthetic co-cultures.

利用合成共培养揭示人类结肠细菌在果胶利用和相关交叉喂养网络中的作用

Solvang Michael, Farquharson Freda M, Horgan Graham, Pisano Sushila, Holck Jesper, Zeuner Birgitte, Russell Wendy R, Louis Petra

Discovery of Lacto-N-Biosidases and a Novel N-Acetyllactosaminidase Activity in the CAZy Family GH20: Functional Diversity and Structural Insights

CAZy家族GH20中乳糖-N-生物苷酶和新型N-乙酰乳糖胺酶活性的发现:功能多样性和结构见解

Vuillemin, Marlene; Muschiol, Jan; Zhang, Yan; Holck, Jesper; Barrett, Kristian; Preben Morth, Jens; Meyer, Anne S; Zeuner, Birgitte

Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease

罕见但重要:评估帕金森病中与肌张力障碍相关的基因变异

Lange, Lara M; Fang, Zih-Hua; Screven, Laurel; Tan, Ai Huey; Alcalay, Roy N; Amouri, Rim; Bovenzi, Roberta; Fenn, Matilda; Frost, Joshua L I; Jankovic, Joseph; Jasaityte, Simona; Jaunmuktane, Zane; Jeon, Beomseok; Keller Sarmiento, Ignacio Juan; Krüger, Rejko; Kuhlenbäumer, Gregor; Lin, Chin-Hsien; Pavelka, Lukas; Periñan, Maria Teresa; Ben Sassi, Samia; Schirinzi, Tommaso; Shin, Jung Hwan; Shulman, Joshua M; Tay, Yi Wen; Uitti, Ryan; Warner, Tom; Wszolek, Zbigniew K; Wu, Lesley; Wu, Ruey-Meei; Zeuner, Kirsten E; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolò E; Morris, Huw R; Lim, Shen-Yang; Lohmann, Katja; Klein, Christine