Publicaciones en colaboración con investigadores/as de Hospital Universitario de Cruces (29)

2023

  1. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

    Brain, Vol. 146, Núm. 8, pp. 3273-3288

2022

  1. Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

    International Journal of Molecular Sciences, Vol. 23, Núm. 19

  2. Pearls & Oy-sters: Tumefactive Demyelinating Lesions with MOG Antibodies Preceding Late Infantile Metachromatic Leukodystrophy

    Neurology, Vol. 99, Núm. 19, pp. 858-861

2020

  1. Identification of a novel variant in EARS2 associated with a severe clinical phenotype expands the clinical spectrum of LTBL

    Genes, Vol. 11, Núm. 9, pp. 1-10

2015

  1. Prevalence and predictors of bacterial meningitis in young infants with fever without a source

    Pediatric Infectious Disease Journal, Vol. 34, Núm. 5, pp. 494-498

  2. Vagus nerve stimulation therapy for treatment-resistant epilepsy: A 15-year experience at a single institution

    Clinical Neurology and Neurosurgery, Vol. 137, pp. 89-93

2013

  1. MECP2 gene study in a large cohort: Testing of 240 female patients and 861 healthy controls (519 females and 342 males)

    Journal of Molecular Diagnostics, Vol. 15, Núm. 5, pp. 723-729

2012

  1. CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

    BMC Medical Genetics, Vol. 13

  2. Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

    Molecular Genetics and Metabolism, Vol. 107, Núm. 3, pp. 409-415

2009

  1. Síndrome de Rett

    Revista Espanola de Pediatria, Vol. 65, Núm. 1, pp. 42-47

2007

  1. Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes

    European Journal of Medical Genetics, Vol. 50, Núm. 1, pp. 11-20

  2. Suspected Herpes Encephalitis and Opercular Syndrome in Childhood

    Pediatric Neurology, Vol. 36, Núm. 3, pp. 202-206

2006

  1. Acute onset ataxia in infancy: Its aetiology, treatment and follow-up

    Revista de Neurologia, Vol. 42, Núm. 6, pp. 321-324

2005

  1. Apraxia of gait: An acquired sequela with a poor prognosis

    Revista de Neurologia, Vol. 40, Núm. 5, pp. 279-281

  2. Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?

    Developmental Medicine and Child Neurology, Vol. 47, Núm. 6, pp. 419-420

2004

  1. Idiopathic catastrophic epileptic encephalopathy: An untreatable convulsive malady in infancy

    Revista de Neurologia, Vol. 38, Núm. 10, pp. 931-934

2003

  1. Amnesia global transitoria: Una enfermedad del adulto presente en la infancia

    Anales de Pediatria

  2. Disturbances of neuroblast migration and amniocentesis. An under-diagnosed problem?

    Revista de Neurologia, Vol. 36, Núm. 1, pp. 33-36

  3. Factors related to the short-term remission of tics in children with Tourette syndrome

    Revista de Neurologia, Vol. 37, Núm. 10, pp. 901-903

  4. Síndrome opercular anterior en la infancia por enfermedad de Moyamoya

    Neurologia, Vol. 18, Núm. 5, pp. 270-271