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

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

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

两名互不相关的男孩均表现出羊水过多、先天性轴性僵硬和骨骼肌病,他们在β-心肌肌球蛋白头部结构域中发现复发性单氨基酸缺失(p.Glu500del)。

Bader, Ingrid; Freilinger, M; Landauer, F; Waldmüller, S; Mueller-Felber, W; Rauscher, C; Sperl, W; Bittner, R E; Schmidt, W M; Mayr, J A

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

孤儿线粒体蛋白 c19orf12 的缺失会导致一种独特的临床亚型神经退行性疾病,并伴有脑铁沉积

Monika B Hartig, Arcangela Iuso, Tobias Haack, Tomasz Kmiec, Elzbieta Jurkiewicz, Katharina Heim, Sigrun Roeber, Victoria Tarabin, Sabrina Dusi, Malgorzata Krajewska-Walasek, Sergiusz Jozwiak, Maja Hempel, Juliane Winkelmann, Matthias Elstner, Konrad Oexle, Thomas Klopstock, Wolfgang Mueller-Felber,

Consensus statement on standard of care for congenital muscular dystrophies

关于先天性肌营养不良症标准治疗的共识声明

Wang, Ching H; Bonnemann, Carsten G; Rutkowski, Anne; Sejersen, Thomas; Bellini, Jonathan; Battista, Vanessa; Florence, Julaine M; Schara, Ulrike; Schuler, Pamela M; Wahbi, Karim; Aloysius, Annie; Bash, Robert O; Béroud, Christophe; Bertini, Enrico; Bushby, Kate; Cohn, Ronald D; Connolly, Anne M; Deconinck, Nicolas; Desguerre, Isabelle; Eagle, Michelle; Estournet-Mathiaud, Brigitte; Ferreiro, Ana; Fujak, Albert; Goemans, Nathalie; Iannaccone, Susan T; Jouinot, Patricia; Main, Marion; Melacini, Paola; Mueller-Felber, Wolfgang; Muntoni, Francesco; Nelson, Leslie L; Rahbek, Jes; Quijano-Roy, Susana; Sewry, Caroline; Storhaug, Kari; Simonds, Anita; Tseng, Brian; Vajsar, Jiri; Vianello, Andrea; Zeller, Reinhard