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

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report

西迪基综合征的神经放射学表型扩展:病例报告

Trilla, Paula; Rodriguez-Revenga, Laia; Sanchez, Aurora; Madrigal, Irene; Milisenda, Jose Cesar; Muñoz, Esteban; Alvarez-Mora, Maria Isabel

Prenatal Use of Exome Sequencing and Chromosomal Microarray Analysis: Indications, Interpretation, and Gene Selection Strategies

产前应用外显子组测序和染色体微阵列分析:适应症、结果解读和基因选择策略

Rodriguez-Revenga, Laia; Ardiles-Ruesjas, Victoria; Borrell, Antoni

Involvement of the Cerebellar Peduncles in FMR1 Premutation Carriers: A Pictorial Review of Their Anatomy, Imaging, and Pathology

FMR1前突变携带者小脑脚的受累情况:解剖、影像学和病理学图解

Paracuellos-Ayala, Irene; Caruana, Giovanni; Reyes Ortega, Macarena Maria; Hagerman, Randi J; Wang, Jun Yi; Rodriguez-Revenga, Laia; Elias-Mas, Andrea

Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing

利用外显子组测序分析自闭症谱系障碍的临床和遗传学发现

Blázquez, Ana; Rodriguez-Revenga, Laia; Alvarez-Mora, María I; Calvo, Rosa

Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers

FMR1前突变携带者中FMR4表达水平与卵巢储备标志物的相关性

Agusti, Ines; Alvarez-Mora, Maria Isabel; Wijngaard, Robin; Borras, Aina; Barcos, Tamara; Peralta, Sara; Guimera, Marta; Goday, Anna; Manau, Dolors; Rodriguez-Revenga, Laia

Prevalence of the FMR1 Gene Premutation in Young Women with a Diminished Ovarian Reserve Included in an IVF Program: Implications for Clinical Practice

卵巢储备功能减退的年轻女性在体外受精项目中FMR1基因前突变的患病率:对临床实践的启示

Agustí, Inés; Méndez, Marta; Borrás, Aina; Goday, Anna; Guimerà, Marta; Peralta, Sara; Ribera, Laura; Rodriguez-Revenga, Laia; Manau, Dolors

Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research

探索脆性 X 相关震颤/共济失调综合征中的 SUMO2/3 表达水平和自噬过程:解决研究局限性并为未来研究提供见解

Maria Isabel Alvarez-Mora, Glòria Garrabou, Laura Molina-Porcel, Ruben Grillo-Risco, Francisco Garcia-Garcia, Tamara Barcos, Judith Cantó-Santos, Laia Rodriguez-Revenga

Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome

评估 AQP4 功能变异及其与脆性 X 染色体相关震颤/共济失调综合征的关联

Elias-Mas, Andrea; Potrony, Miriam; Bague, Jaume; Cutler, David J; Alvarez-Mora, Maria Isabel; Torres, Teresa; Barcos, Tamara; Puig-Butille, Joan Anton; Rubio, Marta; Madrigal, Irene; Puig, Susana; Allen, Emily G; Rodriguez-Revenga, Laia

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review

致死性先天性挛缩综合征11型:病例报告及文献综述

Potrony, Miriam; Borrell, Antoni; Masoller, Narcís; Nadal, Alfons; Rodriguez-Carunchio, Leonardo; Saez de Gordoa Elizalde, Karmele; Quesada-Espinosa, Juan Francisco; Villanueva-Cañas, Jose Luis; Pauta, Montse; Jodar, Meritxell; Madrigal, Irene; Badenas, Celia; Alvarez-Mora, Maria Isabel; Rodriguez-Revenga, Laia

Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients

C9orf72 患者皮肤成纤维细胞的生物能量和自噬特征

Maria Isabel Alvarez-Mora, Gloria Garrabou, Tamara Barcos, Francisco Garcia-Garcia, Ruben Grillo-Risco, Emma Peruga, Laura Gort, Sergi Borrego-Écija, Raquel Sanchez-Valle, Judith Canto-Santos, Paula Navarro-Navarro, Laia Rodriguez-Revenga