Cecilia Jimenez-Mallebrera - Ctr Invest Biomed Red Enfermedades Raras CIBERER

基本信息

浏览量：5

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 168 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,James Collins,Cuixia Tian,Payam Mohassel,Sarah B Neuhaus,Dimah Saade,Benjamin T Cocanougher, Mary-Lynn Chu,Mena Scavina,Carla Grosmann,Randal Richardson, Brian D Kossak,Sidney M Gospe,Vikram Bhise,Gita Taurina,Baiba Lace,Monica Troncoso,Mordechai Shohat,Adel Shalata,Sophelia H S Chan,Manu Jokela,Johanna Palmio,Göknur Haliloğlu,Cristina Jou,Corine Gartioux,Herimela Solomon-Degefa,Carolin D Freiburg,Alvise Schiavinato,Haiyan Zhou,Sara Aguti,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

medRxiv : the preprint server for health sciences（2024）

引用0浏览0WOS引用

Cell-derived Matrices Mechanics As a Functional Read-out in Collagen VI-related Congenital Muscular Dystrophies

Tom White,Arístides López-Márquez,Carmen Badosa,Cecilia Jiménez-Mallebrera, Josep Samitier,Marina I. Giannotti,Anna Lagunas

biorxiv（2024）

引用0浏览0引用

Proteomic and Functional Characterisation of Extracellular Vesicles from Collagen VI Deficient Human Fibroblasts Reveals a Role in Cell Motility

Carmen Badosa,Mónica Roldán, Joaquín Fernández-Irigoyen, Enrique Santamaria,Cecilia Jimenez-Mallebrera

Scientific reports（2023）

引用0浏览0WOSNATURE引用

Considerations in the Preclinical Assessment of the Safety of Antisense Oligonucleotides

Aurelie Goyenvalle,Cecilia Jimenez-Mallebrera,Willeke van Roon,Sabine Sewing, Arthur M. Krieg,Virginia Arechavala-Gomeza,Patrik Andersson

Nucleic acid therapeuticsno. 1 (2023): 1-16

引用8浏览0WOS引用

Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy

Anna Codina,Monica Roldan,Daniel Natera-de Benito,Carlos Ortez,Robert Planas,Leslie Matalonga,Daniel Cuadras,Laura Carrera,Jesica Exposito,Jesus Marquez,Cecilia Jimenez-Mallebrera,Josep M. Porta,Andres Nascimento,Cristina Jou

International journal of molecular sciences（2023）

引用0浏览0WOS引用

Full-Length SMN Transcript in Extracellular Vesicles As Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen

Selena Trifunov,Daniel Natera-de Benito,Laura Carrera-Garcia,Anna Codina,Jesica Exposito-Escudero,Carlos Ortez,Julita Medina, Soraya Torres Alcala,Sara Bernal,Laura Alias,Carmen Badosa,Sol Balsells,Daniel Alcolea,Andres Nascimento,Cecilia Jimenez-Mallebrera

Journal of neuromuscular diseasesno. 4 (2023): 653-665

引用3浏览0WOS引用

Expanding the Phenotypic Spectrum Oftrappc11-Related Muscular Dystrophy: 25 Roma Individuals Carrying a Founder Variant

Journal of Medical Geneticsno. 10 (2023): 965-973

引用0浏览0WOS引用

The Importance of Verifying the Novelty of a Finding and the Value of Combining Results

Cecilia Jiménez‐Mallebrera

Annals of clinical and translational neurologyno. 6 (2022): 893-894

引用1浏览0引用

Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen (vol 31, pg 92, 2021)

Laura Carrera-Garcia,Jordi Muchart, Juan Jose Lazaro,Jessica Exposito-Escudero,Daniel Cuadras,Julita Medina,Magda Bosch de Basea,Jaume Colomer,Cecilia Jimenez-Mallebrera,Carlos Ortez,Daniel Natera-de Benito,Andres Nascimento

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2022): 167-168

引用0浏览0引用

The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy

Enrico Castroflorio, Ana Joaquina Perez Berna,Aristides Lopez-Marquez,Carmen Badosa,Pablo Loza-Alvarez,Monica Roldan,Cecilia Jimenez-Mallebrera

International journal of molecular sciencesno. 14 (2022): 7651-7651

引用4浏览0WOS引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn