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

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial

新生儿脊髓性肌萎缩症筛查的临床有效性:一项非随机对照试验

Schwartz, Oliver; Vill, Katharina; Pfaffenlehner, Michelle; Behrens, Max; Weiß, Claudia; Johannsen, Jessika; Friese, Johannes; Hahn, Andreas; Ziegler, Andreas; Illsinger, Sabine; Smitka, Martin; von Moers, Arpad; Kölbel, Heike; Schreiber, Gudrun; Kaiser, Nadja; Wilichowski, Ekkehard; Flotats-Bastardas, Marina; Husain, Ralf A; Baumann, Matthias; Köhler, Cornelia; Trollmann, Regina; Schwerin-Nagel, Annette; Eisenkölbl, Astrid; Schimmel, Mareike; Fleger, Martin; Kauffmann, Birgit; Wiegand, Gert; Baumgartner, Manuela; Rauscher, Christian; Cirak, Sebahattin; Gläser, Dieter; Bernert, Günther; Hagenacker, Tim; Goldbach, Susanne; Probst-Schendzielorz, Kristina; Lochmüller, Hanns; Müller-Felber, Wolfgang; Schara-Schmidt, Ulrike; Walter, Maggie C; Kirschner, Janbernd; Pechmann, Astrid

Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study

一项基于人群的观察性研究:在DA-CH区域患有脊髓性肌萎缩症的儿童中,使用onasemnogene abeparvovec进行基因治疗的疗效和安全性

Weiß, Claudia; Becker, Lena-Luise; Friese, Johannes; Blaschek, Astrid; Hahn, Andreas; Illsinger, Sabine; Schwartz, Oliver; Bernert, Günther; Hagen, Maja von der; Husain, Ralf A; Goldhahn, Klaus; Kirschner, Janbernd; Pechmann, Astrid; Flotats-Bastardas, Marina; Schreiber, Gudrun; Schara, Ulrike; Plecko, Barbara; Trollmann, Regina; Horber, Veronka; Wilichowski, Ekkehard; Baumann, Matthias; Klein, Andrea; Eisenkölbl, Astrid; Köhler, Cornelia; Stettner, Georg M; Cirak, Sebahattin; Hasselmann, Oswald; Kaindl, Angela M; Garbade, Sven F; Johannsen, Jessika; Ziegler, Andreas

5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2

5qSMA:对268例携带4个SMN2基因拷贝的患者进行标准化回顾性自然史评估

Vill, Katharina; Tacke, Moritz; König, Anna; Baumann, Matthias; Baumgartner, Manuela; Steinbach, Meike; Bernert, Guenther; Blaschek, Astrid; Deschauer, Marcus; Flotats-Bastardas, Marina; Friese, Johannes; Goldbach, Susanne; Gross, Martin; Günther, René; Hahn, Andreas; Hagenacker, Tim; Hauser, Erwin; Horber, Veronka; Illsinger, Sabine; Johannsen, Jessika; Kamm, Christoph; Koch, Jan C; Koelbel, Heike; Koehler, Cornelia; Kolzter, Kirsten; Lochmüller, Hanns; Ludolph, Albert; Mensch, Alexander; Meyer Zu Hoerste, Gerd; Mueller, Monika; Mueller-Felber, Wolfgang; Neuwirth, Christoph; Petri, Susanne; Probst-Schendzielorz, Kristina; Pühringer, Manuel; Steinbach, Robert; Schara-Schmidt, Ulrike; Schimmel, Mareike; Schrank, Bertold; Schwartz, Oliver; Schlachter, Kurt; Schwerin-Nagel, Annette; Schreiber, Gudrun; Smitka, Martin; Topakian, Raffi; Trollmann, Regina; Tuerk, Matthias; Theophil, Manuela; Rauscher, Christian; Vorgerd, Mathias; Walter, Maggie C; Weiler, Markus; Weiss, Claudia; Wilichowski, Ekkehard; Wurster, Claudia D; Wunderlich, Gilbert; Zeller, Daniel; Ziegler, Andreas; Kirschner, Janbernd; Pechmann, Astrid

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial

不同皮质类固醇剂量方案对杜氏肌营养不良症男孩临床疗效的影响:一项随机临床试验

Guglieri, Michela; Bushby, Kate; McDermott, Michael P; Hart, Kimberly A; Tawil, Rabi; Martens, William B; Herr, Barbara E; McColl, Elaine; Speed, Chris; Wilkinson, Jennifer; Kirschner, Janbernd; King, Wendy M; Eagle, Michelle; Brown, Mary W; Willis, Tracey; Griggs, Robert C; Straub, Volker; van Ruiten, Henriette; Childs, Anne-Marie; Ciafaloni, Emma; Shieh, Perry B; Spinty, Stefan; Maggi, Lorenzo; Baranello, Giovanni; Butterfield, Russell J; Horrocks, I A; Roper, Helen; Alhaswani, Zoya; Flanigan, Kevin M; Kuntz, Nancy L; Manzur, Adnan; Darras, Basil T; Kang, Peter B; Morrison, Leslie; Krzesniak-Swinarska, Monika; Mah, Jean K; Mongini, Tiziana E; Ricci, Federica; von der Hagen, Maja; Finkel, Richard S; O'Reardon, Kathleen; Wicklund, Matthew; Kumar, Ashutosh; McDonald, Craig M; Han, Jay J; Joyce, Nanette; Henricson, Erik K; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Wilichowski, Ekkehard; Barohn, Richard J; Statland, Jeffrey M; Campbell, Craig; Vita, Giuseppe; Vita, Gian Luca; Howard, James F Jr; Hughes, Imelda; McMillan, Hugh J; Pegoraro, Elena; Bello, Luca; Burnette, W Bryan; Thangarajh, Mathula; Chang, Taeun

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

一项前瞻性 3 年 SMArtCARE 注册研究显示,在接受诺西那生治疗期间,2 型和 3 型 SMA 非行走患儿的上肢功能得到改善。

Pechmann, Astrid; Behrens, Max; Dörnbrack, Katharina; Tassoni, Adrian; Wenzel, Franziska; Stein, Sabine; Vogt, Sibylle; Zöller, Daniela; Bernert, Günther; Hagenacker, Tim; Schara-Schmidt, Ulrike; Walter, Maggie C; Bertsche, Astrid; Vill, Katharina; Baumann, Matthias; Baumgartner, Manuela; Cordts, Isabell; Eisenkölbl, Astrid; Flotats-Bastardas, Marina; Friese, Johannes; Günther, René; Hahn, Andreas; Horber, Veronka; Husain, Ralf A; Illsinger, Sabine; Jahnel, Jörg; Johannsen, Jessika; Köhler, Cornelia; Kölbel, Heike; Müller, Monika; von Moers, Arpad; Schwerin-Nagel, Annette; Reihle, Christof; Schlachter, Kurt; Schreiber, Gudrun; Schwartz, Oliver; Smitka, Martin; Steiner, Elisabeth; Trollmann, Regina; Weiler, Markus; Weiß, Claudia; Wiegand, Gert; Wilichowski, Ekkehard; Ziegler, Andreas; Lochmüller, Hanns; Kirschner, Janbernd

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

ATAD3A 变体在神经线粒体表型中的功能解释

Zheng Yie Yap #, Yo Han Park #, Saskia B Wortmann #, Adam C Gunning, Shlomit Ezer, Sukyeong Lee, Lita Duraine, Ekkehard Wilichowski, Kate Wilson, Johannes A Mayr, Matias Wagner, Hong Li, Usha Kini, Emily Davis Black, Kristin G Monaghan, James R Lupski, Sian Ellard, Dominik S Westphal, Tamar Harel, W

Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

苏尔噻胺在体外会损害线粒体功能,并可能诱发莱伯遗传性视神经病变患者的视力丧失。

Reinert, Marie-Christine; Pacheu-Grau, David; Catarino, Claudia B; Klopstock, Thomas; Ohlenbusch, Andreas; Schittkowski, Michael; Wilichowski, Ekkehard; Rehling, Peter; Brockmann, Knut

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series

SEPN1相关肌病的临床、组织学和基因型谱:病例系列研究

Villar-Quiles, Rocio N; von der Hagen, Maja; Métay, Corinne; Gonzalez, Victoria; Donkervoort, Sandra; Bertini, Enrico; Castiglioni, Claudia; Chaigne, Denys; Colomer, Jaume; Cuadrado, Maria Luz; de Visser, Marianne; Desguerre, Isabelle; Eymard, Bruno; Goemans, Nathalie; Kaindl, Angela; Lagrue, Emmanuelle; Lütschg, Jürg; Malfatti, Edoardo; Mayer, Michèle; Merlini, Luciano; Orlikowski, David; Reuner, Ulrike; Salih, Mustafa A; Schlotter-Weigel, Beate; Stoetter, Mechthild; Straub, Volker; Topaloglu, Haluk; Urtizberea, J Andoni; van der Kooi, Anneke; Wilichowski, Ekkehard; Romero, Norma B; Fardeau, Michel; Bönnemann, Carsten G; Estournet, Brigitte; Richard, Pascale; Quijano-Roy, Susana; Schara, Ulrike; Ferreiro, Ana

Outcome analysis and risk factors for postoperative colonic ischaemia after aortic surgery

主动脉手术后结肠缺血的结局分析及危险因素

Dovzhanskiy, Dmitriy I; Bischoff, Moritz S; Wilichowski, Christopher D; Rengier, Fabian; Klempka, Anna; Böckler, Dittmar

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

旁系同源基因研究促进基因发现:DDX 和 DHX 基因

Ingrid Paine ,Jennifer E Posey ,Christopher M Grochowski ,Shalini N Jhangiani ,Sarah Rosenheck ,Robert Kleyner ,Taylor Marmorale ,Margaret Yoon ,Kai Wang ,Reid Robison ,Gerarda Cappuccio ,Michele Pinelli ,Adriano Magli ,Zeynep Coban Akdemir ,Joannie Hui ,Wai Lan Yeung ,Bibiana K Y Wong ,Lucia Ortega ,Mir Reza Bekheirnia ,Tatjana Bierhals ,Maja Hempel ,Jessika Johannsen ,René Santer ,Dilek Aktas ,Mehmet Alikasifoglu ,Sevcan Bozdogan ,Hatip Aydin ,Ender Karaca ,Yavuz Bayram ,Hadas Ityel ,Michael Dorschner ,Janson J White ,Ekkehard Wilichowski ,Saskia B Wortmann ,Erasmo B Casella ,Joao Paulo Kitajima ,Fernando Kok ,Fabiola Monteiro ,Donna M Muzny ,Michael Bamshad ,Richard A Gibbs ,V Reid Sutton ,Nicola Brunetti-Pierri ,Friedhelm Hildebrandt ,Ariel Brautbar ,Ignatia B Van den Veyver ,Ian Glass ,Davor Lessel ,Gholson J Lyon ,James R Lupski