Publicaciones en colaboración con investigadoras/es de Hospital Universitario Araba (9)

2023

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

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

2020

  1. A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis

    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 21, Núm. 3-4, pp. 252-262

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

    Genes, Vol. 11, Núm. 1

2019

  1. Author Correction: A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies (Scientific Reports, (2018), 8, 1, (15457), 10.1038/s41598-018-33810-3)

    Scientific Reports

2018

  1. A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

    Scientific Reports, Vol. 8, Núm. 1

2013

  1. Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

    Human Mutation, Vol. 34, Núm. 1, pp. 79-82

2012

  1. Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt-Jakob disease: A case report

    Journal of Medical Case Reports, Vol. 6

2010

  1. Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 153, Núm. 7, pp. 1283-1291

2004

  1. Mitochondrial haplogroups in Basque multiple sclerosis patients

    Multiple Sclerosis, Vol. 10, Núm. 5, pp. 532-535