Publicaciones en colaboración con investigadoras/es de Hospital Universitario de Donostia (20)

2024

  1. CT angiography reconstruction of a rotational vertebral artery syndrome

    Archives of Disease in Childhood

2023

  1. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    Genome medicine, Vol. 15, Núm. 1, pp. 68

  2. Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort

    Neurologia, Vol. 38, Núm. 2, pp. 93-105

2022

  1. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology, Vol. 98, Núm. 9, pp. E912-E923

  2. Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study

    Journal of Medical Genetics, Vol. 59, Núm. 4, pp. 399-409

2021

  1. A Validated WISC-V Short-Form to Estimate Intellectual Functioning in Very Preterm Children at Early School Age

    Frontiers in Psychology, Vol. 12

  2. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

  3. Small for Gestational Age Moderate to Late Preterm Children: A Neuropsychological Follow-up

    Developmental Neuropsychology, Vol. 46, Núm. 4, pp. 277-287

  4. The use of lower or higher than recommended doses of folic acid supplements during pregnancy is associated with child attentional dysfunction at 4–5 years of age in the inma project

    Nutrients, Vol. 13, Núm. 2, pp. 1-16

2020

  1. Canavan gaixotasuna (aspartoazilasaren gabezia): Euskal Herriko lehen kasuaren eta Europako mutazio berri baten aurkezpena

    Osagaiz: osasun-zientzien aldizkaria, Vol. 4, Núm. 2, pp. 71-78

  2. Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

    Human Mutation, Vol. 41, Núm. 4, pp. 837-849

  3. Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

    Scientific Reports, Vol. 10, Núm. 1

  4. Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability

    Genes, Vol. 11, Núm. 1

2019

  1. Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

    Annals of Neurology, Vol. 86, Núm. 2, pp. 293-303

2016

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

    PLoS ONE, Vol. 11, Núm. 5

2014

  1. Amioplasia congénita

    Anales de Pediatria

  2. Herpes simplex virus encephalitis is a trigger of brain autoimmunity

    Annals of Neurology, Vol. 75, Núm. 2, pp. 317-323

2005

  1. Familial Parkinson's disease: Clinical and genetic analysis of four Basque families

    Annals of Neurology, Vol. 57, Núm. 3, pp. 365-372

  2. Trimetazidine induces parkinsonism, gait disorders and tremor

    Therapie

2004

  1. Mitochondrial polymporphisms in Parkinson's Disease

    Neuroscience Letters, Vol. 370, Núm. 2-3, pp. 171-174