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

Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A

为2A型脑桥小脑发育不全患者构建生长曲线和营养方案

Kuhn, Alice; Hackenberg, Maren; Klauser, Anna-Lena; Herrmann, Antonia; Matilainen, Julia; Mayer, Simone; Frölich, Saskia; Krägeloh-Mann, Ingeborg; Groeschel, Samuel; Janzarik, Wibke G

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

ACTB 和 ACTG1 相关非肌肉肌动蛋白病中的分子基因型-表型相关性

Di Donato, Nataliya; Thom, Andrew; Rump, Andreas; Greve, Johannes N; Cadiñanos, Juan; Calabrò, Rocco Salvatore; Cathey, Sara; Chung, Brian; Cope, Heidi; Costales, Maria; Cuvertino, Sara; Dinkel, Philine; Erripi, Kalliopi; Fry, Andrew E; Garavelli, Livia; Hoffjan, Sabine; Janzarik, Wibke G; Kreimer, Insa; Mancini, Grazia; Marin-Reina, Purificacion; Meinhardt, Andrea; Niehaus, Indra; Pilz, Daniela; Ricca, Ivana; Simarro, Fernando Santos; Schrock, Evelin; Marquardt, Anja; Taft, Manuel H; Tezcan, Kamer; Thunström, Sofia; Verhagen, Judith; Verloes, Alain; Wollnik, Bernd; Krawitz, Peter; Hsieh, Tzung-Chien; Seifert, Michael; Heide, Michael; Lawrence, Catherine B; Roberts, Neil A; Manstein, Dietmar J; Woolf, Adrian S; Banka, Siddharth

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

基因组学和蛋白质组学相结合,揭示了肌张力障碍中难以捉摸的变异和巨大的病因异质性

Zech Michael, Dzinovic Ivana, Skorvanek Matej, Harrer Philip, Necpal Jan, Kopajtich Robert, Kittke Volker, Tilch Erik, Zhao Chen, Tsoma Eugenia, Sorrentino Ugo, Indelicato Elisabetta, Stehr Antonia, Saparov Alice, Abela Lucia, Adamovicova Miriam, Afenjar Alexandra, Assmann Birgit, Baloghova Janette, Baumann Matthias, Berutti Riccardo, Brezna Zuzana, Brugger Melanie, Brunet Theresa, Cogne Benjamin, Colangelo Isabel, Conboy Erin, Distelmaier Felix, Eckenweiler Matthias, Garavaglia Barbara, Geerlof Arie, Graf Elisabeth, Hackenberg Annette, Harvanova Denisa, Haslinger Bernhard, Havrankova Petra, Hoffmann Georg F, Janzarik Wibke G, Keren Boris, Kolnikova Miriam, Kolokotronis Konstantinos, Kosutzka Zuzana, Koy Anne, Krenn Martin, Krygier Magdalena, Kusikova Katarina, Maier Oliver, Meitinger Thomas, Mertes Christian, Milenkovic Ivan, Monfrini Edoardo, Santos Dias Mourao Andre, Musacchio Thomas, Nizon Mathilde, Ostrozovicova Miriam, Pavlov Martin, Prihodova Iva, Rektorova Irena, Romito Luigi M, Rybanska Barbora, Sadr-Nabavi Ariane, Schwenger Susanne, Shoeibi Ali, Sitzberger Alexandra, Smirnov Dmitrii, Svantnerova Jana, Tautanova Raushana, Toelle Sandra P, Ulmanova Olga, Vetrini Francesco, Vill Katharina, Wagner Matias, Weise David, Zorzi Giovanna, Di Fonzo Alessio, Oexle Konrad, Berweck Steffen, Mall Volker, Boesch Sylvia, Schormair Barbara, Prokisch Holger, Jech Robert, Winkelmann Juliane

Differential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registry

家族性和散发性SCN8A自限性婴儿癫痫的差异性预后:来自大型国际注册研究的启示

Furia, Francesca; Gverdtsiteli, Sopio; Janzarik, Wibke; Korff, Christian; Lesca, Gaetan; Mancardi, Maria Margherita; Montomoli, Martino; Nikanorova, Marina; Romaniello, Romina; Rubboli, Guido; Syrbe, Steffen; Vigevano, Federico; Møller, Rikke S; Gardella, Elena

Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences

人类小脑桥脑发育不全 2a 类器官模型重现大脑区域特异性尺寸差异

Theresa Kagermeier, Stefan Hauser, Kseniia Sarieva, Lucia Laugwitz, Samuel Groeschel, Wibke G Janzarik, Zeynep Yentür, Katharina Becker, Ludger Schöls, Ingeborg Krägeloh-Mann, Simone Mayer

Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy

PRRT2相关婴儿癫痫抗癫痫药物的疗效、耐受性和维持率

Döring, Jan H; Saffari, Afshin; Bast, Thomas; Brockmann, Knut; Ehrhardt, Laura; Fazeli, Walid; Janzarik, Wibke G; Klabunde-Cherwon, Annick; Kluger, Gerhard; Muhle, Hiltrud; Pendziwiat, Manuela; Møller, Rikke S; Platzer, Konrad; Santos, Joana Larupa; Schröter, Julian; Hoffmann, Georg F; Kölker, Stefan; Syrbe, Steffen

A Group Intervention to Promote Resilience in Nursing Professionals: A Randomised Controlled Trial

一项旨在提升护理专业人员韧性的团体干预:一项随机对照试验

Janzarik, Gesche; Wollschläger, Daniel; Wessa, Michèle; Lieb, Klaus

Cardiac magnetic resonance T2 mapping and feature tracking in athlete's heart and HCM

运动员心脏和肥厚型心肌病的心脏磁共振T2映射和特征追踪

Gastl, Mareike; Lachmann, Vera; Christidi, Aikaterini; Janzarik, Nico; Veulemans, Verena; Haberkorn, Sebastian; Holzbach, Leonie; Jacoby, Christoph; Schnackenburg, Bernhard; Berrisch-Rahmel, Susanne; Zeus, Tobias; Kelm, Malte; Bönner, Florian

Stable high frequency background EEG activity distinguishes epileptic from healthy brain regions

稳定的高频背景脑电活动可以区分癫痫脑区和健康脑区。

Minthe, Annika; Janzarik, Wibke G; Lachner-Piza, Daniel; Reinacher, Peter; Schulze-Bonhage, Andreas; Dümpelmann, Matthias; Jacobs, Julia

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

儿童期PRRT2相关阵发性神经系统疾病的表型谱

Döring, Jan Henje; Saffari, Afshin; Bast, Thomas; Brockmann, Knut; Ehrhardt, Laura; Fazeli, Walid; Janzarik, Wibke G; Kluger, Gerhard; Muhle, Hiltrud; Møller, Rikke S; Platzer, Konrad; Santos, Joana Larupa; Bache, Iben; Bertsche, Astrid; Bonfert, Michaela; Borggräfe, Ingo; Broser, Philip J; Datta, Alexandre N; Hammer, Trine Bjørg; Hartmann, Hans; Hasse-Wittmer, Anette; Henneke, Marco; Kühne, Hermann; Lemke, Johannes R; Maier, Oliver; Matzker, Eva; Merkenschlager, Andreas; Opp, Joachim; Patzer, Steffi; Rostasy, Kevin; Stark, Birgit; Strzelczyk, Adam; von Stülpnagel, Celina; Weber, Yvonne; Wolff, Markus; Zirn, Birgit; Hoffmann, Georg Friedrich; Kölker, Stefan; Syrbe, Steffen