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

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

Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

通过mRNA分析进行杜氏肌营养不良症和贝克尔肌营养不良症的基因诊断:新的剪接事件

Segarra-Casas, Alba; Domínguez-González, Cristina; Hernández-Laín, Aurelio; Sanchez-Calvin, Maria Teresa; Camacho, Ana; Rivas, Eloy; Campo-Barasoain, Andrea; Madruga, Marcos; Ortez, Carlos; Natera-de Benito, Daniel; Nascimento, Andrés; Codina, Anna; Rodriguez, Maria Jose; Gallano, Pia; Gonzalez-Quereda, Lidia

Sex Hormone Receptor Expression in Craniopharyngiomas and Association with Tumor Aggressiveness Characteristics

颅咽管瘤中性激素受体的表达及其与肿瘤侵袭性特征的关系

Martínez-Ortega, Antonio; Flores-Martinez, Álvaro; Venegas-Moreno, Eva; Dios, Elena; Del Can, Diego; Rivas, Eloy; Kaen, Ariel; Cárdenas Ruiz-Valdepeñas, Eugenio; Fajardo, Elena; Roldán, Florinda; González-Rivera, Natividad; Oliva, Rosario; Fernández-Peña, José Ignacio; Soto-Moreno, Alfonso; Cano, David A

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

迟发性胸苷激酶2缺乏症:18例病例回顾

Domínguez-González, Cristina; Hernández-Laín, Aurelio; Rivas, Eloy; Hernández-Voth, Ana; Sayas Catalán, Javier; Fernández-Torrón, Roberto; Fuiza-Luces, Carmen; García García, Jorge; Morís, Germán; Olivé, Montse; Miralles, Frances; Díaz-Manera, Jordi; Caballero, Candela; Méndez-Ferrer, Bosco; Martí, Ramon; García Arumi, Elena; Badosa, María Carmen; Esteban, Jesús; Jimenez-Mallebrera, Cecilia; Encinar, Alberto Blazquez; Arenas, Joaquín; Hirano, Michio; Martin, Miguel Ángel; Paradas, Carmen

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

罗姆人创始人BIN1基因突变导致一种新的中心核肌病表型,伴有脊柱僵硬

Cabrera-Serrano, Macarena; Mavillard, Fabiola; Biancalana, Valerie; Rivas, Eloy; Morar, Bharti; Hernández-Laín, Aurelio; Olive, Montse; Muelas, Nuria; Khan, Eduardo; Carvajal, Alejandra; Quiroga, Pablo; Diaz-Manera, Jordi; Davis, Mark; Ávila, Rainiero; Domínguez, Cristina; Romero, Norma Beatriz; Vílchez, Juan J; Comas, David; Laing, Nigel G; Laporte, Jocelyn; Kalaydjieva, Luba; Paradas, Carmen

TK2 mutation presenting as indolent myopathy

TK2 基因突变表现为惰性肌病

Paradas, Carmen; Gutiérrez Ríos, Purificacion; Rivas, Eloy; Carbonell, Pilar; Hirano, Michio; DiMauro, Salvatore

Quantifiable diagnosis of muscular dystrophies and neurogenic atrophies through network analysis

通过网络分析对肌营养不良症和神经源性萎缩进行量化诊断

Sáez, Aurora; Rivas, Eloy; Montero-Sánchez, Adoración; Paradas, Carmen; Acha, Begoña; Pascual, Alberto; Serrano, Carmen; Escudero, Luis M

Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets

基因表达谱分析可识别与VI型胶原蛋白缺乏相关的分子通路,并提供新的治疗靶点。

Paco, Sonia; Kalko, Susana G; Jou, Cristina; Rodríguez, María A; Corbera, Joan; Muntoni, Francesco; Feng, Lucy; Rivas, Eloy; Torner, Ferran; Gualandi, Francesca; Gomez-Foix, Anna M; Ferrer, Anna; Ortez, Carlos; Nascimento, Andrés; Colomer, Jaume; Jimenez-Mallebrera, Cecilia

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

X染色体失活对有症状的肌营养不良症女性携带者的预后价值

Juan-Mateu, Jonàs; Rodríguez, Maria José; Nascimento, Andrés; Jiménez-Mallebrera, Cecilia; González-Quereda, Lidia; Rivas, Eloy; Paradas, Carmen; Madruga, Marcos; Sánchez-Ayaso, Pedro; Jou, Cristina; González-Mera, Laura; Munell, Francina; Roig-Quilis, Manuel; Rabasa, Maria; Hernández-Lain, Aurelio; Díaz-Manera, Jorge; Gallardo, Eduard; Pascual, Jordi; Verdura, Edgard; Colomer, Jaume; Baiget, Montserrat; Olivé, Montse; Gallano, Pia