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

Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial

鞘内注射onasemnogene abeparvovec治疗既往接受过治疗的脊髓性肌萎缩症患者:一项3b期开放标签试验

Kwon, Jennifer M; Munell, Francina; Le Goff, Laure; Yuge, Kotaro; Kato, Tamaki; Cances, Claude; De Waele, Liesbeth; Woodcock, Ian R; Mercuri, Eugenio M; Proud, Crystal M; Darras, Basil T; Hayes, Leslie H; Oskoui, Maryam; Visootsak, Jeannie; Williams, Gemma; Ilić, Andreja; Yang, Lina; van der Pol, W Ludo

Author Correction: Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial

作者更正:鞘内注射onasemnogene abeparvovec治疗既往接受过治疗的脊髓性肌萎缩症患者:一项3b期开放标签试验

Kwon, Jennifer M; Munell, Francina; Le Goff, Laure; Yuge, Kotaro; Kato, Tamaki; Cances, Claude; De Waele, Liesbeth; Woodcock, Ian R; Mercuri, Eugenio M; Proud, Crystal M; Darras, Basil T; Hayes, Leslie H; Oskoui, Maryam; Visootsak, Jeannie; Williams, Gemma; Ilić, Andreja; Yang, Lina; van der Pol, W Ludo

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

ZNF142基因的双等位基因功能缺失变异与影响有限数量基因组位点的强效DNA甲基化特征相关。

Hildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J; Barakat, Tahsin Stefan; Benoit, Valérie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutiérrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gómez-Puertas, Paulino; Hammer, Trine Bjørg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Iñigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tümer, Zeynep; Tartaglia, Marco

Correction: OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development

更正:OBSCN 在人类心肌和骨骼肌发育过程中经历广泛的替代剪接。

Oghabian, Ali; Jonson, Per Harald; Gayathri, Swethaa Natraj; Johari, Mridul; Nippala, Ella; Andres, David Gomez; Munell, Francina; Soriano, Jessica Camacho; Duran, Maria Angeles Sanchez; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Hackman, Peter; Savarese, Marco; Udd, Bjarne

OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development

OBSCN 在人类心肌和骨骼肌发育过程中经历广泛的选择性剪接。

Oghabian, Ali; Jonson, Per Harald; Gayathri, Swethaa Natraj; Johari, Mridul; Nippala, Ella; Andres, David Gomez; Munell, Francina; Soriano, Jessica Camacho; Duran, Maria Angeles Sanchez; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Hackman, Peter; Savarese, Marco; Udd, Bjarne

Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies

常染色体显性肌动蛋白病中下肢肌肉MRI的不同模式

Gómez-Andrés, David; Costa-Comellas, Laura; Díaz-Manera, Jordi; Õunap, Katrin; Álvarez-Molinero, Mireia; Urcuyo, Gabriela; Savarese, Marco; Munell, Francina; Udd, Bjarne

Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons

吉维诺司他治疗杜氏肌营养不良症的长期疗效评价及自然病程比较

McDonald, Craig M; Guglieri, Michela; Vučinić, Dragana; Acsadi, Gyula; Brandsema, John F; Bruno, Claudio; Finanger, Erika L; Harper, Amy; Lobato, Mercedes Lopez; Masson, Riccardo; Muelas, Nuria; Munell, Francina; Nevo, Yoram; Péréon, Yann; Phan, Han; Sansone, Valeria A; Scoto, Mariacristina; Willis, Tracey; Finkel, Richard S; Vandenborne, Krista; Cazzaniga, Sara; Montrasio, Silvia; Alessi, Federica; Bettica, Paolo; Mercuri, Eugenio

Inferring disease course from differential exon usage in the wide titinopathy spectrum

通过肌联蛋白病谱系中外显子的差异使用来推断疾病进程

Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Gomez Andres, David; Brady, Angela F; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; Natera De Benito, Daniel; Nascimiento Osorio, Andres; Estévez Arias, Berta; Kurbatov, Sergei A; Attie-Bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Camacho Soriano, Jessica; Sanchez Duran, Maria Angeles; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco

Cooperative housing under a grant-of-use in Catalonia and health: pre-post analysis

加泰罗尼亚合作住房使用权与健康:前后对比分析

Reyes, Alexia; Macaya Munell, Irene; Borrell, Carme; Carmezim Correia, Joao Pedro; Fernández, Ana; Vásquez-Vera, Constanza; Pérez, Katherine; Carrere, Juli; Daví, Lali; Novoa, Ana M

Exercise to treat psychopathology and other clinical outcomes in schizophrenia: A systematic review and meta-analysis

运动疗法治疗精神分裂症的精神病理及其他临床疗效:系统评价和荟萃分析

Gallardo-Gómez, Daniel; Noetel, Michael; Álvarez-Barbosa, Francisco; Alfonso-Rosa, Rosa María; Ramos-Munell, Javier; Del Pozo Cruz, Borja; Del Pozo-Cruz, Jesús