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

Long-term clinical and radiological trajectories in ANO5-related myopathies highlight muscle MRI as a predictor of disease progression

ANO5相关肌病的长期临床和影像学轨迹表明,肌肉MRI可作为疾病进展的预测指标。

Aragon-Gawinska, Karolina; Martí, Pilar; Azorín, Inmaculada; Sivera, Rafael; Aller, Elena; Pitarch, Inmaculada; Benlloch, Carlos; Tárrega, María; Vilar, Rosa; Díaz, Carmina; Sánchez-Roy, Rafael; Más-Estellés, Fernando; Frasquet, Marina; Vázquez-Costa, Juan F; Otero-Borell, Mar; Vilchez, Roger; Vilchez, Juan J; Sevilla, Teresa; Muelas, Nuria

SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

SNUPN相关肌营养不良症:新的表型、病理和功能蛋白见解

Muelas, Nuria; Iruzubieta, Pablo; Damborenea, Alberto; Pérez-Fernández, Laura; Azorín, Inmaculada; Jiménez García, Juan Carlos; Töpf, Ana; Martí, Pilar; Fores-Toribio, Lorena; Manterola, María; Blanco-Mañez, Rosana; Pikatza-Menoio, Oihane; Alonso-Martín, Sonia; Straub, Volker; Cortajarena, Aitziber L; López de Munain, Adolfo; De Sancho, David; Blázquez, Lorea; Vilchez, Juan J

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain

西班牙东部地区遗传性痉挛性截瘫临床外显子组测序的诊断率和基因型-表型相关性研究

Carretero-Vilarroig, Lidón; Sivera, Rafael; Baviera, Raquel; Espinós, Carmen; Muelas, Nuria; Vazquez-Costa, Juan Francisco; Aller, Elena; Bataller, Luis; Jaijo, Teresa

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies

肌肉磁共振成像有助于鉴别诊断远端肌病和远端遗传性运动神经病

Payá, María; Portela, Sofía; Sivera, Rafael; Frasquet, Marina; Más-Estellés, Fernando; Martí, Pilar; Azorín, Inmaculada; Aragon-Gawinska, Karolina; Tárrega, María; Argente-Escrig, Herminia; Vázquez-Costa, Juan F; Vilchez, Roger; Vilchez, Juan J; Sevilla, Teresa; Muelas, Nuria

Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease

POLG相关线粒体疾病的临床异质性和候选生物标志物

Bermejo-Guerrero, Laura; Restrepo-Vera, Juan Luis; Martin-Jimenez, Paloma; Navarro-Riquelme, Maria; Garrido-Moraga, Rocío; Ochoa, Luz Edith; González-Quintana, Adrián; Hernandez-Lain, Aurelio; Castillo-Villalba, Jessica; Morís, Germán; Muelas, Nuria; García-Arumí, Elena; González, Victoria; Martínez-Sáez, Elena; Vesperinas, Ana; Llansó, Laura; Juntas-Morales, Raul; Paradas, Carmen; Kapetanovic, Solange; Blázquez, Alberto; Martí, Ramon; Arenas, Joaquín; Martín, Miguel A; Domínguez-González, Cristina

Efficacy and safety of efavirenz in Niemann-Pick disease type C

依非韦伦治疗尼曼-匹克病C型的疗效和安全性

Gascón-Bayarri, Jordi; Rico, Inmaculada; Sánchez-Castañeda, Cristina; Ledesma, María Dolores; Carnaval, Thiago; Bejr-Kasem, Helena; Campdelacreu, Jaume; Ferrer, Anna; Rodríguez-Bel, Laura; Cos, Mónica; de Lama, Eugenia; López de Munain, Adolfo; Rouco, Idoia; Pérez-Sousa, Celia; Cerdán, María; Muelas, Nuria; Sevillano, María Dolores; Mir, Pablo; Villoria, Jesús; Videla, Sebastián

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

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy

含缬氨酸蛋白多系统蛋白病的肌肉活检结果

Schiava, Marianela; Parkhurst, Yolande; Henderson, Matthew; Polvikoski, Tuomo; Valtcheva, Manouela V; Nishino, Ichizo; Inoue, Michio; Nishimori, Yukako; Saito, Yoshihiko; Stojkovic, Tanya; Villar-Quiles, Rocio N; Romero, Norma Beatriz; Evangelista, Teresinha; Malfatti, Edoardo; Souvannanorath, Sarah; Pegoraro, Elena; Riguzzi, Pietro; Monforte, Mauro; Bortolani, Sara; Torchia, Eleonora; Sabatelli, Mario; Tasca, Giorgio; Straub, Volker; Marini-Bettolo, Chiara; Guglieri, Michela; Cetin, Hakan; Gelpi, Ellen; Klotz, Sigrid; De Bleecker, Jan L; Alonso-Jimenez, Alicia; Baets, Jonathan; De Ridder, Willem; De Jonghe, Peter; Claeys, Kristl G; Thal, Dietmar Rudolf; Bevilacqua, Jorge A; Luo, Sushan; Zhu, Wenhua; Lin, Jie; Papadimas, George; Papadopoulos, Constantinos; Zamba-Papanicolaou, Eleni; Xirou, Sophia; Pal, Endre; Rodolico, Carmelo; Kostera-Pruszczyk, Anna; Kierdaszuk, Biruta; Kaminska, Anna; Muelas, Nuria; Vilchez, Juan Jesus; Domínguez-González, Cristina; Hernandez-Lain, Aurelio; Alonso-Perez, Jorge; Nedkova-Hristova, Velina; Aledo, Carlos; Oldfors, Anders; Badrising, Umesh A; Kushlaf, Hani; Lloyd, Thomas E; Ikenaga, Chiseko; Alfano, Lindsay N; Quinn, Colin C; Walk, David; Vorgerd, Matthias; Weihl, Conrad; Olivé, Montse; Diaz-Manera, Jordi

MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.

MYL1相关先天性肌病:临床、遗传和病理学见解

Madrigal Irene, Villar-Vera Cristina, Arca Gemma, Expósito-Escudero Jesica, Rodríguez-Revenga Laia, Piolatti-Luna Andres, Muelas Nuria, Vilchez Roger, Ciutad Celdran Maria, Codina Anna, Estévez-Arias Berta, Carrera-Garcia Laura, Ortez Carlos, Rodriguez-Carunchio Leonardo, Sebastiani Giorgia, Azorin Inmaculada, Nascimento Andrés, Jou Cristina, Vilchez Juan Jesus, Natera-de Benito Daniel

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis

更正:对大量VCP介导疾病患者进行肌肉磁共振成像分析,揭示了有助于诊断的特征。

Esteller, Diana; Schiava, Marianela; Verdú-Díaz, José; Villar-Quiles, Rocío-Nur; Dibowski, Boris; Venturelli, Nadia; Laforet, Pascal; Alonso-Pérez, Jorge; Olive, Montse; Domínguez-González, Cristina; Paradas, Carmen; Vélez, Beatriz; Kostera-Pruszczyk, Anna; Kierdaszuk, Biruta; Rodolico, Carmelo; Claeys, Kristl; Pál, Endre; Malfatti, Edoardo; Souvannanorath, Sarah; Alonso-Jiménez, Alicia; de Ridder, Willem; De Smet, Eline; Papadimas, George; Papadopoulos, Constantinos; Xirou, Sofia; Luo, Sushan; Muelas, Nuria; Vilchez, Juan J; Ramos-Fransi, Alba; Monforte, Mauro; Tasca, Giorgio; Udd, Bjarne; Palmio, Johanna; Sri, Srtuhi; Krause, Sabine; Schoser, Benedikt; Fernández-Torrón, Roberto; López de Munain, Adolfo; Pegoraro, Elena; Farrugia, Maria Elena; Vorgerd, Mathias; Manousakis, Georgious; Chanson, Jean Baptiste; Nadaj-Pakleza, Aleksandra; Cetin, Hakan; Badrising, Umesh; Warman-Chardon, Jodi; Bevilacqua, Jorge; Earle, Nicholas; Campero, Mario; Díaz, Jorge; Ikenaga, Chiseko; Lloyd, Thomas E; Nishino, Ichizo; Nishimori, Yukako; Saito, Yoshihiko; Oya, Yasushi; Takahashi, Yoshiaki; Nishikawa, Atsuko; Sasaki, Ryo; Marini-Bettolo, Chiara; Guglieri, Michela; Straub, Volker; Stojkovic, Tanya; Carlier, Robert Y; Díaz-Manera, Jordi