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

Excitotoxicity in amyotrophic lateral sclerosis: a key pathogenic mechanism

肌萎缩侧索硬化症中的兴奋性毒性:一种关键的致病机制

Silva-Hucha, Silvia; Hernández, Rosendo G; Baena-López, Diego; Fernández de Sevilla, María Estrella; Paradas, Carmen; Morcuende, Sara

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

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

HMGCS1 变异体可导致脊柱僵硬综合征,在动物模型中可通过甲羟戊酸治疗治愈

Dofash Lein N H, Miles Lee B, Saito Yoshihiko, Rivas Eloy, Calcinotto Vanessa, Oveissi Sara, Serrano Rita J, Templin Rachel, Ramm Georg, Rodger Alison, Haywood Joel, Ingley Evan, Clayton Joshua S, Taylor Rhonda L, Folland Chiara L, Groth David, Hock Daniella H, Stroud David A, Gorokhova Svetlana, Donkervoort Sandra, Bönnemann Carsten G, Sud Malika, VanNoy Grace E, Mangilog Brian E, Pais Lynn, O'Donnell-Luria Anne, Madruga-Garrido Marcos, Scala Marcello, Fiorillo Chiara, Baratto Serena, Traverso Monica, Malfatti Edoardo, Bruno Claudio, Zara Federico, Paradas Carmen, Ogata Katsuhisa, Nishino Ichizo, Laing Nigel G, Bryson-Richardson Robert J, Cabrera-Serrano Macarena, Ravenscroft Gianina

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2

肌营养不良蛋白缺乏型肢带型肌营养不良症R2型临床结局研究中高密度脂蛋白相关胆固醇异常

White, Zoe; Rufibach, Laura; Dressman, Heather Gordish; Hilsden, Heather; Cox, Dan; Spuler, Simone; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Diaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R; Straub, Volker; Bernatchez, Pascal

Features of the First Case of Foodborne Botulism Caused by Dual-Toxin Clostridium parabotulinum Subtype A1(B5) in Spain

西班牙首例由双毒素副肉毒梭菌A1(B5)亚型引起的食源性肉毒中毒病例的特征

Valdezate, Sylvia; Valiente, Mónica; Carrasco, Gema; Medina-Pascual, María J; Hurtado, María Isabel; de Pipaón, Maite Ruiz; Garrido, Noelia; Paradas, Carmen; Hernández-Bello, José Ramón; Villalón, Pilar

The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice

糖基转移酶POGLUT1调控小鼠肌肉干细胞的发育和维持。

Cho, Soomin; Servián-Morilla, Emilia; Navarro, Victoria; Rodriguez-Gonzalez, Beatriz; Yuan, Youxi; Cano, Raquel; Rambhiya, Arjun A; Darabi, Radbod; Haltiwanger, Robert S; Paradas, Carmen; Jafar-Nejad, Hamed

A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity

Laing远端肌病相关的β-肌球蛋白杆状结构中的脯氨酸取代会扰乱肌球蛋白的横桥活性。

Buvoli, Massimo; Wilson, Genevieve Ck; Buvoli, Ada; Gugel, Jack F; Hau, Abbi; Bönnemann, Carsten G; Paradas, Carmen; Ryba, David M; Woulfe, Kathleen C; Walker, Lori A; Buvoli, Tommaso; Ochala, Julien; Leinwand, Leslie A

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

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

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

EURO-NMD 注册库:基于 FAIR 原则的联合基础设施、创新技术和以患者为中心的罕见神经肌肉疾病注册库理念

Atalaia, Antonio; Wandrei, Dagmar; Lalout, Nawel; Thompson, Rachel; Tassoni, Adrian; 't Hoen, Peter A C; Athanasiou, Dimitrios; Baker, Suzie-Ann; Sakellariou, Paraskevi; Paliouras, Georgios; D'Angelo, Carla; Horvath, Rita; Mancuso, Michelangelo; van der Beek, Nadine; Kornblum, Cornelia; Kirschner, Janbernd; Pareyson, Davide; Bassez, Guillaume; Blacas, Laura; Jacoupy, Maxime; Eng, Catherine; Lamy, François; Plançon, Jean-Philippe; Haberlova, Jana; Brusse, Esther; Hoeijmakers, Janneke G J; de Visser, Marianne; Claeys, Kristl G; Paradas, Carmen; Toscano, Antonio; Silani, Vincenzo; Gyenge, Melinda; Reviers, Evy; Hamroun, Dalil; Vroom, Elisabeth; Wilkinson, Mark D; Lochmuller, Hanns; Evangelista, Teresinha