Publications by authors named "Serrano Mercedes"

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Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring.
Florencia Epifani, Lluc Cabus, Gregorio A Nolasco, Mercè Bolasell, Jennifer Pérez, Mercedes Serrano

J Inherit Metab Dis· November 2025

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Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric study.
Emily Liebling, Caroline Freychet, Valentina Guarnieri, Marija Jelusic, Jordi Antón López, Mercedes Serrano

Orphanet J Rare Dis· November 2025

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Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Mercedes Serrano

Am J Med Genet A· September 2025

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The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial.
Jörg F Hipp, Carlos A Bacino, Lynne M Bird, Ina Bruenig-Traebert, Daniel Chan, Mercedes Serrano

Nat Med· September 2025

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Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.
Gregorio A Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Mercedes Serrano

Ann Clin Transl Neurol· September 2025

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Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.
Laura Trujillano, Irene Valenzuela, Mar Costa-Roger, Ivon Cuscó, Paula Fernandez-Alvarez, Mercedes Serrano

Clin Genet· June 2025

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Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.
Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, Dries Verdegem, Christian Thiel, Mercedes Serrano

Cell Mol Life Sci· June 2025

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Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano, Peter Witters, Anna Cechova

Hum Mutat· April 2025

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Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
Veronika Holubova, Rita Barone, Stephanie Grunewald, Markéta Tesařová, Hana Hansíková, Mercedes Serrano

J Inherit Metab Dis· January 2025

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Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.
Pedro Granjo, Carlota Pascoal, Diana Gallego, Rita Francisco, Jaak Jaeken, Mercedes Serrano

Orphanet J Rare Dis· November 2024

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Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.
Bar Neeman, Sniya Sudhakar, Asthik Biswas, Jessica Rosenblum, Jai Sidpra, Mercedes Serrano

AJNR Am J Neuroradiol· October 2024

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[Rare diseases: unraveling the biological bases to find future therapies].
Mercedes Serrano

Medicina (B Aires)· September 2024

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Early treatment for children with mental health problems and genetic conditions through a parenting intervention (The GAP): study protocol for a pragmatic randomized controlled trial.
Mercedes Serrano, Maria Elias, Marta Llorens, Mercè Bolasell, Helena Vall-Roqué

Trials· July 2024

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Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Carmen Palma-Milla, Aina Prat-Planas, Emma Soengas-Gonda, Mónica Centeno-Pla, Jaime Sánchez-Pozo, Mercedes Serrano

Pediatr Neurol· June 2024

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Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG.
Diana Gallego, Mercedes Serrano, Jose Cordoba-Caballero, Alejandra Gámez, Pedro Seoane

Biochim Biophys Acta Mol Basis Dis· June 2024

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European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry.
Madeleine Bloomfield, Alexandra Lautarescu, Síofra Heraty, Sarah Douglas, Pierre Violland, Mercedes Serrano

BMJ Open· June 2024

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Developmental outcome of electroencephalographic findings in encephalopathy.
Juliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, Mercedes Serrano

Front Cell Dev Biol· March 2024

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Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.
Florencia Epifani, Susana María Pujol Serra, Marta Llorens, Sol Balcells, Gregorio Nolasco, Mercedes Serrano

Sci Rep· December 2023

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Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel Variant and Its Unreported Phenotype.
Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Mercedes Serrano

Int J Mol Sci· September 2023

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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Mercedes Serrano

Am J Hum Genet· July 2023

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Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.
Vega-Hanna Lourdes, Sanz-Cuesta Mario, Casas-Alba Didac, Bolasell Mercè, Martorell Loreto, Serrano Mercedes

Front Pediatr· June 2023

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Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera

J Med Genet· April 2023

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Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report.
Maria Eugenia Amato, Silvia Ricart, Maria Asunción Vicente, Loreto Martorell, Judith Armstrong, Mercedes Serrano

Clin Case Rep· April 2023

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Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Gerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, Cristina Peduto, Iris Scala, Mercedes Serrano

Am J Med Genet A· October 2022

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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Mercedes Serrano

Front Genet· April 2022

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