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Mercedes Serrano

15PUBLICATIONS
53CO-AUTHORS
Gene and molecular therapyNeurology and neuromuscular diseasesSatellite, space vehicle and missile design and testingCell and nuclear divisionEpigenetics (incl. genome methylation and epigenomics)
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Journal

Publications (15)

Sort by Publication Date:
|Oct 14, 2025
Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring.

Florencia Epifani, Lluc Cabus, Gregorio A Nolasco

|Sep 26, 2025
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.

Gregorio A Nolasco, Mònica Roldán, Yalda Jamshidi

|Jul 11, 2025
The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial.

Jörg F Hipp, Carlos A Bacino, Lynne M Bird

|Apr 29, 2025
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

Roser Urreizti, Jessica Vissicchio, Mohamed Idries

|Apr 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano

|Dec 05, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Veronika Holubova, Rita Barone, Stephanie Grunewald

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Frequent Collaborators

4 joint publications

Roser Urreizti

3 joint publications

José M Fernández-Fernández

2 joint publications

Mercè Izquierdo-Serra

2 joint publications

Tomáš Honzík

2 joint publications

Loreto Martorell

2 joint publications

Raquel Rabionet

1 joint publications

Ramón Cancho-Candela

1 joint publications

Laura Castilla-Vallmanya

1 joint publications

Mónica Centeno-Pla

1 joint publications

Abraham J Paredes-Fuentes

Frequent Collaborators

4 joint publications

Roser Urreizti

3 joint publications

José M Fernández-Fernández

2 joint publications

Mercè Izquierdo-Serra

2 joint publications

Tomáš Honzík

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