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Mercedes Serrano

ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 9

Top Venues

International journal of molecular sciences

American journal of medical genetics. Part A

Pflugers Archiv : European journal of physiology

Human mutation

Hospital Sant Joan de Déu

Hospital Sant Joan de Déu (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Hospital Sant Joan de Déu May 2o 2012

Spain

Senior Assistant :: Pediatric Neurology

Education History

Hospital Sant Joan de Déu

Spain

PHD :: Pediatric Neurology and Genetic Medicine

Publications

Monica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Manel García-Aragonés, Florencia Epifani, Jordi Muchart, María Luisa Ramírez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype. International journal of molecular sciences 24 (18) (2023)
Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A G Ranea, Pedro Seoane, Clara Oliva, Abraham J Paredes-Fuentes, Gemma Marfany, Rafael Artuch, Daniel Grinberg, Raquel Rabionet Janssen, Susanna Balcells, Roser Urreizti
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. Journal of medical genetics (2022)
Antonio F Martínez-Monseny, Albert Edo, Dídac Casas-Alba, Mercè Izquierdo-Serra, Mercè Bolasell, David Conejo, Loreto Martorell, Jordi Muchart, Laura Carrera, Carlos I Ortez, Andrés Nascimento, Baldo Oliva, José M Fernández-Fernández, Mercedes Serrano
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings. International journal of molecular sciences 22 (10) (2021)
Claudia Castiglioni, François Feillet, Christine Barnerias, Arnaud Wiedemann, Jordi Muchart, Fanny Cortes, Cristina Hernando-Davalillo, Raquel Montero, Thierry Dupré, Arnaud Bruneel, Nathalie Seta, Sandrine Vuillaumier-Barrot, Mercedes Serrano
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications. Human mutation 42 (2) (2020)
Mercè Izquierdo-Serra, José M Fernández-Fernández, Mercedes Serrano
Rare CACNA1A mutations leading to congenital ataxia. Pflugers Archiv : European journal of physiology 472 (7) (2020)
Dídac Casas-Alba, Laura López-Sala, Marta Pérez-Ordóñez, Rosanna Mari-Vico, Mercè Bolasell, Antonio F Martínez-Monseny, Jordi Muchart, José M Fernández-Fernández, Loreto Martorell, Mercedes Serrano
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review. American journal of medical genetics. Part A 185 (1) (2020)
Antonio F Martinez-Monseny, Dídac Casas-Alba, César Arjona, Mercè Bolasell, Paula Casano, Jordi Muchart, Federico Ramos, Loreto Martorell, Francesc Palau, Alfredo García-Alix, Mercedes Serrano
Okur-Chung neurodevelopmental syndrome in a patient from Spain. American journal of medical genetics. Part A 182 (1) (2019)
Mercè Izquierdo-Serra, Antonio F Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M Fernández-Fernández, Mercedes Serrano
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy. International journal of molecular sciences 19 (2) (2018)
Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, null null
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG). Orphanet journal of rare diseases 12 (1) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Mercedes Serrano