Publications in collaboration with researchers from Karolinska Institute (22)

2021

  1. SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

    Journal of Experimental Medicine, Vol. 218, Núm. 6

2020

  1. Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis

    Scientific Reports, Vol. 10, Núm. 1

  2. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

  3. Autoantibodies against type I IFNs in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

2019

  1. Neurological disorders in central Spain, second survey: Feasibility pilot observational study

    Journal of Medical Internet Research, Vol. 21, Núm. 1

  2. Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

    Nature Medicine, Vol. 25, Núm. 1, pp. 152-164

  3. Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

    Scientific Reports, Vol. 9, Núm. 1

2018

  1. Selective eye fixations on diagnostic face regions of dynamic emotional expressions: KDEF-dyn database

    Scientific Reports, Vol. 8, Núm. 1

  2. Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

    PLoS Medicine, Vol. 15, Núm. 1

  3. A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

    Brain, Vol. 141, Núm. 10, pp. 2895-2907

2017

  1. TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    Human Mutation, Vol. 38, Núm. 3, pp. 297-309

  2. Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

    Scientific Reports, Vol. 7, Núm. 1

  3. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

    Nature Genetics, Vol. 49, Núm. 9, pp. 1373-1384

  4. Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease

    Acta Neuropathologica, Vol. 134, Núm. 3, pp. 475-487

2016

  1. A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease

    Acta Neuropathologica, Vol. 132, Núm. 2, pp. 213-224

2015

  1. Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

    Human Mutation, Vol. 36, Núm. 12, pp. 1226-1235

  2. Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

    Human Molecular Genetics, Vol. 24, Núm. 20, pp. 5677-5686

  3. Impact of physical activity and cardiovascular fitness on total homocysteine concentrations in European adolescents: The HELENA study

    Journal of Nutritional Science and Vitaminology, Vol. 61, Núm. 1, pp. 45-54

  4. Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: A European early-onset dementia consortium study

    Neurobiology of Aging, Vol. 36, Núm. 5, pp. 2005.e15-2005.e22

2014

  1. Frontotemporal dementia and its subtypes: A genome-wide association study

    The Lancet Neurology, Vol. 13, Núm. 7, pp. 686-699