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

Efficacy and safety of risdiplam in adults with 5q-associated spinal muscular atrophy: a nationwide observational cohort study in Austria

利司帕林治疗5q相关脊髓性肌萎缩症成人患者的疗效和安全性:一项奥地利全国性观察性队列研究

Keritam, Omar; Erdler, Marcus; Fasching, Bernhard; Zulehner, Gudrun; Rath, Jakob; Krenn, Martin; Waldhör, Thomas; Gruber, Victoria Anna; Langweil, Nadine; Kiss, Christian; Griedl, Theresa Antonia; Gold, Valeriu; Wanschitz, Julia; Hotter, Anna; Kleinveld, Vera E A; Horlings, Corinne G C; Erber, Astrid; Schernhammer, Eva; Troger, Johannes; Grinzinger, Susanne; Müller, Petra; Langenscheidt, Dieter; Rappold, Mika; Wiesenhofer, Anna; Gosk-Tomek, Magdalena; Knipp, Florian; Mahal, Simone; Bernert, Günther; Baumann, Matthias; Zimprich, Fritz; Topakian, Raffi; Eggers, Christian; Quasthoff, Stefan; Löscher, Wolfgang; Cetin, Hakan

Summary of Research: Fertility Outcomes in Risdiplam-Treated Male Patients with Spinal Muscular Atrophy: A Multicenter Case Series

研究概要:利司他林治疗脊髓性肌萎缩症男性患者的生育结局:一项多中心病例系列研究

Coskery, Shelley; Erdler, Marcus; Frey, Margaret R; Lopez, Michael A

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

双等位基因 NSUN3 变异导致多种表型谱疾病:从孤立性视神经萎缩到严重的早发性线粒体疾病

Jurkute Neringa, Brennenstuhl Heiko, Kustermann Monika, Van Haute Lindsey, Mutti Christian D, Bugiardini Enrico, Handa Takayuki, Shimura Masaru, Petzold Axel, Acheson James, Robson Anthony G, Macken William L, Hanna Michael G, Pitceathly Robert D S, Merve Ashirwad, Kotzaeridou Urania, Kölker Stefan, Freilinger Michael, Erdler Marcus, Bittner Reginald E, Mayr Johannes A, Okazaki Yasushi, Murayama Kei, Prokisch Holger, Webster Andrew R, Minczuk Michal, Arno Gavin, Pemp Berthold, Hoffmann Georg F, Schmidt Wolfgang M, Yu-Wai-Man Patrick

Fertility Outcomes in Risdiplam-Treated Male Patients with Spinal Muscular Atrophy: A Multicenter Case Series

利司他林治疗脊髓性肌萎缩症男性患者的生育结局:一项多中心病例系列研究

Coskery, Shelley; Erdler, Marcus; Frey, Margaret R; Lopez, Michael A

Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease

抗IgLON5疾病中运动障碍的发生频率和特征

Gaig, Carles; Compta, Yaroslau; Heidbreder, Anna; Marti, Maria J; Titulaer, Maarten J; Crijnen, Yvette; Högl, Birgit; Lewerenz, Jan; Erro, María Elena; García-Moncó, Juan Carlos; Nigro, Pasquale; Tambasco, Nicola; Patalong-Ogiewa, Maja; Erdler, Marcus; Macher, Stefan; Berger-Sieczkowski, Evelyn; Höftberger, Romana; Geis, Christian; Hutterer, Markus; Milán-Tomás, Angela; Martin-Bastida, Antonio; Manzanares, Lydia Lopez; Quintas, Sonia; Höglinger, Günter U; Möhn, Nora; Schöberl, Florian; Thaler, Franziska S; Asioli, Gian Maria; Provini, Federica; Plazzi, Giuseppe; Berganzo, Koldo; Blaabjerg, Morten; Brüggemann, Norbert; Farias, Tarsis; Ng, Chen Fei; Giordana, Caroline; Herrero-San Martín, Alejandro; Huebra, Lucio; Kotschet, Katya; Liendl, Herburg; Montojo, Teresa; Morata, Carlos; Pérez-Pérez, Jesus; Puertas, Inmaculada; Seifert-Held, Thomas; Seitz, Caspar; Simabukuro, Mateus Mistieri; Téllez, Nieves; Villacieros-Álvarez, Javier; Willekens, Barbara; Sabater, Lidia; Iranzo, Alex; Santamaria, Joan; Dalmau, Josep; Graus, Francesc

Co-incidental C9orf72 expansion mutation-related frontotemporal lobar degeneration pathology and sporadic Creutzfeldt-Jakob disease

偶然发现的C9orf72扩增突变相关的额颞叶变性病理与散发性克雅氏病

Klotz, Sigrid; König, Theresa; Erdler, Marcus; Ulram, Andreas; Nguyen, Anita; Ströbel, Thomas; Zimprich, Alexander; Stögmann, Elisabeth; Regelsberger, Günther; Höftberger, Romana; Budka, Herbert; Kovacs, Gabor G; Gelpi, Ellen