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

Caregiver-reported Patient Experiences with Duchenne Muscular Dystrophy: Qualitative In-trial Interviews 1 Year After Delandistrogene Moxeparvovec in the Pivotal EMBARK Trial

照护者报告的杜氏肌营养不良症患者体验:关键性 EMBARK 试验中 Delandistrogene Moxeparvovec 治疗 1 年后的定性试验内访谈

Audhya, Ivana; Nacson, Alise B; Gooch, Katherine; Basnyat, Bonita; Slota, Christina; Martin, Susan; Murphy, Alex; Lansdall, Claire J; Ciobanu, Teofil; Nascimento, Andres; Veerapandiyan, Aravindhan

Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.

CHRNE相关先天性肌无力综合征患者队列的血液生物标志物指纹图谱

Della Marina Adela, Koutsoulidou Andrie, Natera-de Benito Daniel, Tykocinski Lars-Oliver, Tomazou Marios, Georgiou Kristia, Laner Andreas, Kölbel Heike, Nascimento Andres, Ortez Carlos, Abicht Angela, Thakur Basant Kumar, Lochmüller Hanns, Phylactou Leonidas A, Ruck Tobias, Schara-Schmidt Ulrike, Kale Dipali, Hentschel Andreas, Roos Andreas

Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

表型驱动的基因组学可提高对未确诊神经肌肉疾病患儿的诊断水平

Estévez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Polavarapu, Kiran; Codina, Anna; Ortez, Carlos; Carrera-García, Laura; Expósito-Escudero, Jesica; Jou, Cristina; Meyer, Stefanie; Kilicarslan, Ozge Aksel; Aleman, Alberto; Thompson, Rachel; Luknárová, Rebeka; Esteve-Codina, Anna; Gut, Marta; Laurie, Steven; Demidov, German; Yépez, Vicente A; Beltran, Sergi; Gagneur, Julien; Topf, Ana; Lochmüller, Hanns; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc; Natera-de Benito, Daniel

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

HMG CoA还原酶(HMGCR)缺乏对骨骼肌发育的影响

Gunasekaran Mekala, Littel Hannah R, Wells Natalya M, Turner Johnnie, Campos Gloriana, Venigalla Sree, Estrella Elicia A, Ghosh Partha S, Daugherty Audrey L, Stafki Seth A, Kunkel Louis M, Foley A Reghan, Donkervoort Sandra, Bönnemann Carsten G, Toledo-Bravo de Laguna Laura, Nascimento Andres, Natera-de Benito Daniel, Draper Isabelle, Bruels Christine C, Pacak Christina A, Kang Peter B

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

胎儿运动不能/运动减少和神经肌肉源性关节挛缩:病因分类、遗传学和表型谱

Pérez-Vidarte, Florencia; Estévez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Codina, Anna; Ortez, Carlos; Medina, Julita; DeSena DeCabo, Lidia; Carrera-García, Laura; Expósito-Escudero, Jesica; Jou, Cristina; Tizzano, Eduardo F; Nascimento, Andres; Natera-de Benito, Daniel

Mutations of GEMIN5 are associated with coenzyme Q(10) deficiency: long-term follow-up after treatment

GEMIN5基因突变与辅酶Q10缺乏症相关:治疗后的长期随访

Cascajo-Almenara, Marivi V; Juliá-Palacios, Natalia; Urreizti, Roser; Sánchez-Cuesta, Ana; Fernández-Ayala, Daniel M; García-Díaz, Elena; Oliva, Clara; O Callaghan, Maria Del Mar; Paredes-Fuentes, Abraham J; Moreno-Lozano, Pedro J; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R; Rajan, Deepa S; Navas, Plácido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; García-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocaña, Carlos; Artuch, Rafael

Epilepsy in Duchenne and Becker muscular dystrophies

杜氏肌营养不良症和贝克尔肌营养不良症中的癫痫

Armijo Gómez, Jesus Alfonso; Fernandez-Garcia, Miguel A; Camacho, Ana; Liz, Marlin; Ortez, Carlos; Lafuente-Hidalgo, Miguel; Toledo Bravo-de Laguna, Laura; Estévez-Arias, Berta; Carrera-García, Laura; Expósito-Escudero, Jessica; Domínguez-Carral, Jana; Nascimento, Andres; Natera-de Benito, Daniel

Clinical and Genetic Analysis of Patients With TK2 Deficiency

TK2 缺乏症患者的临床和基因分析

Ceballos, Francisco; Serrano-Lorenzo, Pablo; Bermejo-Guerrero, Laura; Blázquez, Alberto; Quesada-Espinosa, Juan F; Amigo, Jorge; Minguez, Pablo; Ayuso, Carmen; García-Arumí, Elena; Muelas, Nuria; Jaijo, Teresa; Nascimento, Andres; Galán-Rodriguez, Beatriz; Paradas, Carmen; Arenas, Joaquín; Carracedo, Angel; Martí, Ramon; Martín, Miguel A; Domínguez-González, Cristina

Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study

阿匹格罗单抗治疗脊髓性肌萎缩症患者的长期疗效、安全性和患者报告结局:来自 36 个月 TOPAZ 研究的结果

Crawford, Thomas O; Day, John W; De Vivo, Darryl C; Krueger, Jena M; Mercuri, Eugenio; Nascimento, Andres; Pasternak, Amy; Mazzone, Elena Stacy; Duong, Tina; Song, Guochen; Marantz, Jing L; Baver, Scott; Yu, Dongzi; Liu, Lan; Darras, Basil T

Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases

增进对囊泡相关膜蛋白1相关先天性肌无力综合征的理解:表型见解、对3,4-二氨基吡啶的良好反应以及5例新病例的临床特征

Natera-de Benito, Daniel; Pugliese, Alessia; Polavarapu, Kiran; Guergueltcheva, Velina; Tournev, Ivailo; Todorova, Albena; Afonso Ribeiro, Joana; Fernández-Mayoralas, Daniel M; Ortez, Carlos; Martorell, Loreto; Estévez-Arias, Berta; Matalonga, Leslie; Laurie, Steven; Jou, Cristina; Lau, Jarred; Thompson, Rachel; Shen, Xinming; Engel, Andrew G; Nascimento, Andres; Lochmüller, Hanns; Selcen, Duygu