Mercè Bolasell

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

B. Oliva, C. Ortez, A. Martínez-Monseny, 2021, International journal of molecular sciences.

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

N. Brunetti‐Pierri, M. Pinelli, I. Scala, 2022, American journal of medical genetics. Part A.

Okur‐Chung neurodevelopmental syndrome in a patient from Spain

C. Arjona, A. García-Alix, A. Martínez-Monseny, 2019, American journal of medical genetics. Part A.

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

A. Martínez-Monseny, L. Martorell, J. Muchart, 2020, American journal of medical genetics. Part A.

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

D. Cuadras, C. Pérez-Cerdá, R. Artuch, 2019, Annals of neurology.

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

Belén Pérez, Rafael Artuch, Alfons Macaya, 2018, Journal of Medical Genetics.

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

D. Cuadras, R. Artuch, M. Couce, 2018, Neuropediatrics.

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

Mercè Bolasell, M. C. Miranda-Herrero, B. Robles, 2023, Scientific reports.