Merce Bolasell

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 14 publications

Correction: Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.

Correction: Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.

Journal: Frontiers in pediatrics

Published: May 14, 2026

Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring.

Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring.

Journal: Journal of inherited metabolic disease

Published: June 07, 2025

MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.

MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.

Journal: Diagnostics (Basel, Switzerland)

Published: October 25, 2024

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.

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.

Journal: Trials

Published: May 09, 2024

Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.

Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.

Journal: AJNR. American journal of neuroradiology

Published: March 21, 2024

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.

Journal: Scientific reports

Published: July 23, 2023

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.

Journal: American journal of medical genetics. Part A

Published: February 06, 2022

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.

Journal: International journal of molecular sciences

Published: April 13, 2021

Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.

Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.

Journal: American journal of medical genetics. Part A

Published: July 03, 2020

Okur-Chung neurodevelopmental syndrome in a patient from Spain.

Okur-Chung neurodevelopmental syndrome in a patient from Spain.

Journal: American journal of medical genetics. Part A

Published: July 30, 2019

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).

Journal: Annals of neurology

Published: November 11, 2018

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.

Journal: Neuropediatrics

Published: October 11, 2018

Showing 1-12 of 14

Last Updated: 09/26/2026