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

Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission

涉及谷氨酸能神经传递的神经遗传疾病的代谢特征

Sofía Illescas, Yaiza Diaz-Osorio, Anna Serradell, Lucía Toro-Soria, Uliana Musokhranova, Natalia Juliá-Palacios, Juliana Ribeiro-Constante, Xavier Altafaj, Mireia Olivella, Mar O'Callaghan, Alejandra Darling, Judith Armstrong, Rafael Artuch, Àngels García-Cazorla, Alfonso Oyarzábal

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

Leigh 综合征是 PTCD3 缺陷的主要临床特征

Gerard Muñoz-Pujol, Juan D Ortigoza-Escobar, Abraham J Paredes-Fuentes, Cristina Jou, Olatz Ugarteburu, Laura Gort, Delia Yubero, Angels García-Cazorla, Mar O'Callaghan, Jaume Campistol, Jordi Muchart, Vicente A Yépez, Mirjana Gusic, Julien Gagneur, Holger Prokisch, Rafael Artuch, Antonia Ribes, Ros

Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects

雷特综合征模型和患者中即刻早期基因表达的整体受损与髓鞘形成缺陷有关

Paolo Petazzi, Olga Caridad Jorge-Torres, Antonio Gomez, Iolanda Scognamiglio, Jordi Serra-Musach, Angelika Merkel, Daniela Grases, Clara Xiol, Mar O'Callaghan, Judith Armstrong, Manel Esteller, Sonia Guil

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

作者更正:下一代测序技术在雷特综合征分子诊断中的应用

Vidal, Silvia; Brandi, Núria; Pacheco, Paola; Gerotina, Edgar; Blasco, Laura; Trotta, Jean-Rémi; Derdak, Sophia; Del Mar O'Callaghan, Maria; Garcia-Cazorla, Àngels; Pineda, Mercè; Armstrong, Judith

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy

揭示 MeCP2 相关综合征中发生改变的分子通路,寻找新的潜在治疗途径

Alba-Aina Castells, Rafel Balada, Alba Tristán-Noguero, Mar O'Callaghan, Elisenda Cortès-Saladelafont, Ainhoa Pascual-Alonso, Àngels Garcia-Cazorla, Judith Armstrong, Soledad Alcántara

Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

全面分析雷特综合征中 GABAA-A1R 发育改变:以疾病的时间框架为治疗目标设定重点

Alfonso Oyarzabal, Clara Xiol, Alba Aina Castells, Cristina Grau, Mar O'Callaghan, Guerau Fernández, Soledad Alcántara, Mercè Pineda, Judith Armstrong, Xavier Altafaj, Angels García-Cazorla

Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

Celia 的脑病和 BSCL2 基因中的 c.974dupG:已知变体中的隐藏变化

Sofía Sánchez-Iglesias, Melissa Crocker, Mar O'Callaghan, Alejandra Darling, Angels García-Cazorla, Rosario Domingo-Jiménez, Ana Castro, Antía Fernández-Pombo, Álvaro Ruibal, Pablo Aguiar, Miguel Garrido-Pumar, Antonio Rodríguez-Núñez, Julián Álvarez-Escudero, Rebecca J Brown, David Araújo-Vilar3

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

下一代测序在雷特综合征分子诊断中的应用

Silvia Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Blasco, Jean-Rémi Trotta, Sophia Derdak, Maria Del Mar O'Callaghan, Àngels Garcia-Cazorla, Mercè Pineda, Judith Armstrong; Rett Working Group

Selective elimination of mitochondrial mutations in the germline by genome editing

通过基因组编辑选择性地消除生殖细胞系中的线粒体突变

Reddy, Pradeep; Ocampo, Alejandro; Suzuki, Keiichiro; Luo, Jinping; Bacman, Sandra R; Williams, Sion L; Sugawara, Atsushi; Okamura, Daiji; Tsunekawa, Yuji; Wu, Jun; Lam, David; Xiong, Xiong; Montserrat, Nuria; Esteban, Concepcion Rodriguez; Liu, Guang-Hui; Sancho-Martinez, Ignacio; Manau, Dolors; Civico, Salva; Cardellach, Francesc; Del Mar O'Callaghan, Maria; Campistol, Jaime; Zhao, Huimin; Campistol, Josep M; Moraes, Carlos T; Izpisua Belmonte, Juan Carlos