Cecilia Mallebrera-Jimenez
Madrid, MD, Spain
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 61 publications
The landscape and trajectory of global CRISPR therapeutics.
Journal: Molecular therapy. Nucleic acids
Published: August 28, 2026
Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.
Journal: Journal of neuromuscular diseases
Published: July 28, 2026
Col6a1 knock-in mice provide a promising pre-clinical model for collagen VI-related dystrophies.
Journal: Disease models & mechanisms
Published: April 30, 2025
Advanced delivery systems for gene editing: A comprehensive review from the GenE-HumDi COST Action Working Group.
Journal: Molecular therapy. Nucleic acids
Published: February 24, 2025
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.
Journal: Annals of clinical and translational neurology
Published: February 05, 2025
Collablots: Quantification of Collagen VI Levels and Its Structural Disorganisation in Cell Cultures From Patients With Collagen VI-Related Dystrophies.
Journal: Neuropathology and applied neurobiology
Published: December 06, 2024
The artificial intelligence challenge in rare disease diagnosis: A case study on collagen VI muscular dystrophy.
Journal: Computers in biology and medicine
Published: November 18, 2024
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Journal: Brain : a journal of neurology
Published: October 03, 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.
Journal: medRxiv : the preprint server for health sciences
Published: April 08, 2024
Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility.
Journal: Scientific reports
Published: April 17, 2023
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.
Journal: Journal of neuromuscular diseases
Published: April 11, 2023
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Journal: Journal of medical genetics
Published: December 30, 2022
Last Updated: 09/26/2026