Cecilia Jiménez-Mallebrera

6PUBLICATIONS
74CO-AUTHORS
Neurology and neuromuscular diseasesCancer geneticsMedical molecular engineering of nucleic acids and proteinsMedical biochemistry - lipids
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Publications (6)

|May 25, 2025
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.

Alba Segarra-Casas, Cristina Domínguez-González, Daniel Natera-de Benito

|Apr 08, 2024
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

|Apr 13, 2023
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy.

Anna Codina, Mònica Roldán, Daniel Natera-de Benito

|Oct 14, 2022
Pathological Features in Paediatric Patients with TK2 Deficiency.

Cristina Jou, Andres Nascimento, Anna Codina

|Jul 27, 2022
The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy.

Enrico Castroflorio, Ana Joaquina Pérez Berná, Arístides López-Márquez

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Frequent Collaborators

4 joint publications

Daniel Natera-de Benito

3 joint publications

Mónica Roldán

2 joint publications

Jesica Expósito-Escudero

1 joint publications

Enrico Castroflorio