Publicacions en col·laboració amb investigadors/es de Hospital Universitario 12 de Octubre (71)

2024

  1. Epilepsy in Duchenne and Becker muscular dystrophies

    Annals of Clinical and Translational Neurology

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. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: New splicing events

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 615-619

2022

  1. CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy

    International Journal of Molecular Sciences, Vol. 23, Núm. 9

  2. Neurological complications of liver transplantation in paediatric patients

    Neurology Perspectives, Vol. 2, Núm. 1, pp. 26-33

2021

  1. Candidate genes for eyelid myoclonia with absences, review of the literature

    International Journal of Molecular Sciences, Vol. 22, Núm. 11

  2. First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center

    Neurogenetics, Vol. 22, Núm. 4, pp. 343-346

  3. Towards a change in the diagnostic algorithm of autism spectrum disorders: Evidence supporting whole exome sequencing as a first-tier test

    Genes, Vol. 12, Núm. 4

2020

  1. Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis

    Journal of Neuromuscular Diseases, Vol. 7, Núm. 3, pp. 309-313

  2. Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

    Neurologia, Vol. 35, Núm. 3, pp. 185-206

  3. Clinical spectrum of BICD2 mutations

    European Journal of Neurology, Vol. 27, Núm. 7, pp. 1327-1335

  4. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    Brain, Vol. 143, Núm. 9, pp. 2696-2708

2019

  1. Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1

    Neuromuscular Disorders, Vol. 29, Núm. 3, pp. 247-250

  2. Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

    Medicina Clinica, Vol. 153, Núm. 2, pp. 82.e1-82.e17

  3. Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy

    Neurologia, Vol. 34, Núm. 7, pp. 469-481

2018

  1. Congenital Titinopathy: Comprehensive characterization and pathogenic insights

    Annals of Neurology, Vol. 83, Núm. 6, pp. 1105-1124

  2. Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review

    Brain and Development, Vol. 40, Núm. 4, pp. 348-352

  3. Neuroradiological Features of Six Patients with Propionic Acidemia

    Journal of Pediatric Neurology, Vol. 16, Núm. 6, pp. 390-396

  4. Report by the Spanish Foundation for the Brain on the social impact of amyotrophic lateral sclerosis and other neuromuscular disorders

    Neurologia

  5. Steroids for familial acute necrotizing encephalopathy: A future investment?

    Clinical Neurology and Neurosurgery, Vol. 174, pp. 134-136