Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (9)

2024

  1. Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation

    Movement Disorders, Vol. 39, Núm. 9, pp. 1578-1591

  2. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

    Pediatric Neurology, Vol. 155, pp. 8-17

2023

  1. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

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

    Scientific Reports, Vol. 13, Núm. 1

2019

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

    Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751

2018

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

    Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413

  2. Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy

    International Journal of Molecular Sciences, Vol. 19, Núm. 2

2017

  1. Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) (J Inherit Metab Dis, 10.1007/s10545–017–0028-4)

    Journal of Inherited Metabolic Disease

2014

  1. Hemiplejía alternante de la infancia: estudio del gen ATP1A3 en 16 pacientes

    Medicina Clinica, Vol. 143, Núm. 1, pp. 25-28