Publicaciones en colaboración con investigadores/as de Hospital Universitario Central de Asturias (32)

2023

  1. Strategic discussion on funding and access to therapies targeting rare diseases in Spain: an expert consensus paper

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

  2. Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study

    Neurology and Therapy, Vol. 12, Núm. 1, pp. 89-105

2022

  1. Prevalencia y distribución geográfica del síndrome de Wolf-Hirschhorn en España

    Revista espanola de salud publica, Vol. 96

  2. Therapeutic Decision-Making Under Uncertainty in the Management of Spinal Muscular Atrophy: Results From DECISIONS-SMA Study

    Neurology and Therapy, Vol. 11, Núm. 3, pp. 1209-1219

  3. Therapeutic decisions under uncertainty for spinal muscular atrophy: The DECISIONS-SMA study protocol

    PLoS ONE, Vol. 17, Núm. 2 February

2021

  1. Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study

    Neuropediatrics, Vol. 52, Núm. 3, pp. 192-200

  2. Paradigmatic de novo grin1 variants recapitulate pathophysiological mechanisms underlying grin1‐related disorder clinical spectrum

    International Journal of Molecular Sciences, Vol. 22, Núm. 23

2020

  1. Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study

    The Lancet Neurology, Vol. 19, Núm. 3, pp. 234-246

  2. International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

    American Journal of Medical Genetics, Part A

  3. Symptomatic epilepsy with Panayiotopoulos-like onset: The importance of neuroimaging

    Revista de Neurologia, Vol. 70, Núm. 4, pp. 134-138

2019

  1. New anti-epileptic drugs in Paediatrics

    Anales de Pediatria, Vol. 91, Núm. 6, pp. 415.e1-415.e10

  2. Prevalence of autism spectrum disorders in USA, Europe and Spain: Coincidences and discrepancies.

    Medicina (Argentina), Vol. 79, Núm. 1, pp. 4-9

2018

  1. Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

    The Lancet Neurology, Vol. 17, Núm. 9, pp. 760-772

2017

  1. La exploración neurológica en la edad infantil

    Pediatria Integral

  2. Symptomatic absence seizures, the least known causation of absence seizures

    Revista de Neurologia, Vol. 65, Núm. 6, pp. 263-267

  3. Wolf-hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review

    Revista de Neurologia, Vol. 64, Núm. 9, pp. 393-400

2016

  1. Targeted next generation sequencing in patients with inborn errors of metabolism

    PLoS ONE, Vol. 11, Núm. 5

2015

  1. Autoimmune post-herpes simplex encephalitis of adults and teenagers

    Neurology, Vol. 85, Núm. 20, pp. 1736-1743

2014

  1. Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex

    Journal of Neuro-Oncology, Vol. 118, Núm. 2, pp. 205-223

2013

  1. Natalizumab use in pediatric patients with relapsing-remitting multiple sclerosis

    European Journal of Paediatric Neurology, Vol. 17, Núm. 1, pp. 50-54