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

Tracing the molecular route to progression in miRNA-biogenesis-defective thyroid lesions

追踪 miRNA 生物合成缺陷型甲状腺病变进展的分子途径

Chong, Anne-Sophie; Roca, Carla; Morales-Sánchez, Paula; Dorca, Eduard; Barea, Verónica; Ruz-Caracuel, Ignacio; Valderrabano, Pablo; Rovira, Carlota; Jou, Cristina; Bouron-Dal Soglio, Dorothée; Chernock, Rebecca D; Torrezan, Giovana T; Pusztaszeri, Marc; Cameselle-Teijeiro, José M; Matias-Guiu, Xavier; Alvarez, Clara V; Salvador, Héctor; Wasserman, Jonathan D; Leandro-García, Luis Javier; Foulkes, William D; Andrés-León, Eduardo; Casano-Sancho, Paula; Rivera, Barbara

Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease

艾司洛莫尔-铜疗法改善了两名患有门克斯病的儿童的神经发育。

Godoy-Molina, Elena; Serrano, Natalia L; Jiménez-González, Aquilina; Villaronga, Miquel; Marqués Pérez-Bryan, Rosa M; Varela-Fernández, Rubén; Lotz-Esquivel, Stephanie; Hevia Tuñón, Alba; Trivedi, Prachi P; Horn, Nina; Standing, Joseph F; Mangas-Sanjuan, Víctor; Capdevila, Mercè; Mateos, Aurora; Broun, Denis; Lutsenko, Svetlana; Medina-Rivera, Ines; Artuch, Rafael; Jou, Cristina; Roldán, Mònica; Arango-Sancho, Pedro; Saez-Villafañe, Mónica; Ortiz-de-Urbina, Juan J; Pieras-López, Angela; Duero, Marta; Farré, Rosa; Pijuan, Jordi; Hoenicka, Janet; Sacchettini, James C; Petris, Michael J; Gohil, Vishal M; Palau, Francesc

Age-Related Patterns of Type II Interferon Immunity: Implications for Intramacrophagic Infections and MSMD Diagnosis During Childhood

与年龄相关的II型干扰素免疫模式:对儿童时期巨噬细胞内感染和MSMD诊断的意义

Luo, Yiyi; Argüello, Guillermo; Acevedo, Daniel; Jou, Cristina; Codina, Anna; Márquez, Jesús; Vlagea, Alexandru; Peiró, Sara; Bolaño, Víctor; Freixedas, Aina; Deyà-Martínez, Angela; García-García, Ana; Martí-Castellote, Celia; Juan, Manel; Esteve-Solé, Ana; Alsina, Laia

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

Proteins of the cancer cell secretome induce the protumoral microenvironment of diffuse intrinsic pontine glioma.

癌细胞分泌组的蛋白质诱导弥漫性内生性脑桥胶质瘤的促肿瘤微环境

Baulenas-Farres Merce, Paco Sonia, Marino Federica, Mohr Jacqueline, Panisello Carla, Balaguer-Lluna Leire, Aschero Rosario, Cuadrado-Vilanova Maria, Resa-Pares Claudia, Rodriguez Eva, Marquez Jesus, Menéndez Pablo, Jou Cristina, Benitez Raul, Benitez-Ribas Daniel, Lavarino Cinzia, Mora Jaume, Carcaboso Angel M

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

将肌肉RNA测序转化为临床应用,用于肌肉疾病的诊断

Segarra-Casas, Alba; Domínguez-González, Cristina; Natera-de Benito, Daniel; Kapetanovic, Solange; Hernández-Laín, Aurelio; Estévez-Arias, Berta; Llansó, Laura; Ortez, Carlos; Jou, Cristina; Martí-Carrera, Itxaso; López-Márquez, Arístides; Rodríguez, Maria José; González-Mera, Laura; Nedkova, Velina; Fernández-Torrón, Roberto; Rodríguez-Santiago, Benjamín; Jimenez-Mallebrera, Cecília; Juntas-Morales, Raul; López-de Munain, Adolfo; Surrallés, Jordi; Nascimento, Andrés; Gallardo, Eduard; Olivé, Montse; Gallano, Pia; González-Quereda, Lidia

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

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

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

提高诊断精准度:表型驱动分析揭示RYR1先天性肌病患者的母系嵌合现象

Estévez-Arias, Berta; Matalonga, Leslie; Martorell, Loreto; Codina, Anna; Ortez, Carlos; Carrera-García, Laura; Expósito-Escudero, Jessica; Yubero, Delia; Hoenicka, Janet; Jou, Cristina; Palau, Francesc; Beltran, Sergi; Lochmüller, Hanns; Töpf, Ana; Nascimento, Andrés; Natera-de Benito, Daniel

Desensitizing the autonomic nervous system to mitigate anti-GD2 monoclonal antibody side effects

通过降低自主神经系统敏感性来减轻抗GD2单克隆抗体的副作用

Mora, Jaume; Climent, Alejandra; Roldán, Mònica; Flores, Marta Cecilia; Varo, Amalia; Perez-Jaume, Sara; Jou, Cristina; Celma, Mónica S; Lazaro, Juan José; Cheung, Irene; Castañeda, Alicia; Gorostegui, Maite; Rodriguez, Eva; Chamorro, Saray; Muñoz, Juan Pablo; Cheung, Nai-Kong