Publications by authors named "Merce Bolasell"

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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

J Inherit Metab Dis· November 2025

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Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.
Lourdes Vega-Hanna, Dídac Casas-Alba, Sol Balsells, Mercè Bolasell, Patricia Rubio

Diagnostics (Basel)· December 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, Mercè Bolasell

AJNR Am J Neuroradiol· October 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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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, Mercè Bolasell

Sci Rep· December 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

Front Pediatr· June 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, Mercè Bolasell

Am J Med Genet A· October 2022

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Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.
Antonio F Martínez-Monseny, Albert Edo, Dídac Casas-Alba, Mercè Izquierdo-Serra, Mercè Bolasell

Int J Mol Sci· May 2021

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Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.
Dídac Casas-Alba, Laura López-Sala, Marta Pérez-Ordóñez, Rosanna Mari-Vico, Mercè Bolasell

Am J Med Genet A· January 2021

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Okur-Chung neurodevelopmental syndrome in a patient from Spain.
Antonio F Martinez-Monseny, Dídac Casas-Alba, César Arjona, Mercè Bolasell, Paula Casano

Am J Med Genet A· January 2020

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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Antonio F Martínez-Monseny, Mercè Bolasell, Laura Callejón-Póo, Daniel Cuadras, Verónica Freniche

Ann Neurol· May 2019

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From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
Antonio Martinez-Monseny, Daniel Cuadras, Mercè Bolasell, Jordi Muchart, César Arjona

J Med Genet· April 2019

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Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
Débora Itzep, Antonio F Martínez-Monseny, Mercè Bolasell, Daniel Cuadras, Ramón Velázquez-Fragua

Neuropediatrics· December 2018

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Mutation of PACS1: the milder end of the spectrum.
Antonio Martinez-Monseny, Mercè Bolasell, Cesar Arjona, Loreto Martorell, Delia Yubero

Clin Dysmorphol· October 2018

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