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

Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry

脊髓性肌萎缩症治疗进展:来自SMArtCARE注册研究的启示

Voigt-Müller, Cornelia; Pfaffenlehner, Michelle; Bernert, Günther; Cetin, Hakan; Hagenacker, Tim; Kölbel, Heike; Lochmüller, Hanns; Pfeuffer, Christian; Vill, Katharina; Walter, Maggie C; Kirschner, Janbernd; Pechmann, Astrid

Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022

关于罕见病新生儿基因筛查(gNBS)的偏好、态度和观点:2009年至2022年文献的系统综述和综合分析

Martin, Sylvia; Kyosovska-Peshtenska, Gergana; Audi, Jennifer; Zarakowska, Kaja; Grauman, Åsa; Veldwijk, Jorien; Hauber, Brett; Coulter, Joshua; Fürer, Aileen; Wagner, Alexandra; Piperkova, Aneta; Gross, Edith Sky; Knieling, Ferdinand; Gumus, Gulcin; Zak, Marek; Martinez-Fresno, Maria; Granados, Alicia; Sansen, Stefaan; Man, Yuen; Kirschner, Janbernd; Bruno, Lucia Pia; Bertini, Enrico Silvio; Ottombrino, Silvia; Novelli, Antonio; Agolini, Emanuele; Courbier, Sandra; Garnier, Nicolas; Jackson, Tsungai; Velinov, Branimir; Dubief, Jessie; Raming, Roman; Saier, Christina; Fortunato, Fernanda; Frankova, Vera; Hansson, Mats

Pilocytic astrocytoma in a child with spinal muscular atrophy treated with onasemnogene abeparvovec

一名接受onasemnogene abeparvovec治疗的脊髓性肌萎缩症患儿出现毛细胞型星形细胞瘤。

Holzwarth, Dorothea; Calaminus, Gabriele; Friese, Johannes; Sejersen, Thomas; Büning, Hildegard; John-Neek, Philipp; Bastone, Antonella Lucía; Rothe, Michael; Mansfield, Keith; Libertini, Silvana; Dubost, Valérie; Kuzmiski, Brent; Alecu, Iulian; Labik, Ivan; Kirschner, Janbernd

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

对由复发性变异 COL6A1 c.930+189C>T 引起的严重 COL6 相关营养不良症进行表征

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

Data-driven consideration of genetic disorders for global genomic newborn screening programs

基于数据驱动的遗传疾病考量,用于全球新生儿基因组筛查项目

Minten, Thomas; Bick, Sarah; Adelson, Sophia; Gehlenborg, Nils; Amendola, Laura M; Boemer, François; Coffey, Alison J; Encina, Nicolas; Ferlini, Alessandra; Kirschner, Janbernd; Russell, Bianca E; Servais, Laurent; Sund, Kristen L; Taft, Ryan J; Tsipouras, Petros; Zouk, Hana; Bick, David; Green, Robert C; Gold, Nina B

The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey

神经肌肉疾病中最令人困扰的症状:ERN EURO NMD 调查

Mancuso, Michelangelo; Colitta, Alessandro; Lavorato, Manuela; Van den Bergh, Peter; Kirschner, Janbernd; Kornblum, Cornelia; Maggi, Lorenzo; Lamy, Francois; Lochmüller, Hanns; Nordstrøm, Marianne; Malfatti, Edoardo; Ferlini, Alessandra; Pareyson, Davide; Silani, Vincenzo; Kleopa, Kleopas A; de Visser, Marianne; Atalaia, Antonio; Evangelista, Teresinha

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project

TREAT:作为Screen4Care项目的一部分,用于新生儿基因组筛查的系统性和包容性基因选择过程。

Saier, Christina; Sansen, Stefaan; Berghout, Joanne; Freyler, Kathrin; Einhorn, Moshe; Einhorn, Yaron; Matalonga, Leslie; Beltran, Sergi; Novelli, Antonio; Selvatici, Rita; Fortunato, Fernanda; Montanari, Silvia; Martinez-Fresno, Maria; Gumus, Gulcin; Agolini, Emanuele; Garnier, Nicolas; Ferlini, Alessandra; Bertini, Enrico; Kirschner, Janbernd

Epidemiology, disease burden and costs of Duchenne muscular dystrophy in Germany: an observational, retrospective health claims data analysis

德国杜氏肌营养不良症的流行病学、疾病负担和成本:一项基于观察性回顾性健康索赔数据分析的研究

Diesing, Joanna; Kirschner, Janbernd; Pechmann, Astrid; König, Jörg; Kunk, Leonie; Garcia, Tarcyane Barata; Schwedhelm, Carolina; Militzer-Horstmann, Carsta; Hänsel, Ivonne; Kisser, Agnes

Respiratory function in 192 adult patients with spinal muscular atrophy (SMA) treated with nusinersen - a multicenter observational study

一项多中心观察性研究:192例接受诺西那生治疗的脊髓性肌萎缩症(SMA)成年患者的呼吸功能

Wurster, Claudia D; Stolte, Benjamin; Kessler, Tobias; Freigang, Maren; Bjelica, Bogdan; Ilse, Benjamin; Koch, Jan C; Cordts, Isabell; Mensch, Alexander; Zeller, Daniel; Uzelac, Zeljko; Sam, Georges; Lapp, Hanna Sophie; Wohnrade, Camilla; Rödiger, Annekathrin; Muhandes, Mohamad Tareq; Schneider, Ilka; Bellut, Julia; Nentwich, Julia; Dorst, Johannes; Schuster, Joachim; Schreiber-Katz, Olivia; Osmanovic, Alma; Totzeck, Andreas; Thimm, Andreas; Steinbach, Robert; Grosskreutz, Julian; Kleinschnitz, Christoph; Ludolph, Albert C; Deschauer, Marcus; Kirschner, Janbernd; Dreyhaupt, Jens; Wollinsky, Kurt; Petri, Susanne; Weiler, Markus; Hagenacker, Tim; Günther, René

Investigating a Domain Adaptation Approach for Integrating Different Measurement Instruments in a Longitudinal Clinical Registry

研究一种用于整合纵向临床注册研究中不同测量工具的领域自适应方法

Hackenberg, Maren; Pfaffenlehner, Michelle; Behrens, Max; Pechmann, Astrid; Kirschner, Janbernd; Binder, Harald