Publicaciones en colaboración con investigadores/as de Pierre and Marie Curie University (14)

2024

  1. Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease

    Nature Genetics, Vol. 56, Núm. 1, pp. 27-36

2023

  1. Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2) (npj Parkinson's Disease, (2023), 9, 1, (100), 10.1038/s41531-023-00526-9)

    npj Parkinson's Disease

  2. Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)

    npj Parkinson's Disease, Vol. 9, Núm. 1

  3. Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children

    Science (New York, N.Y.), Vol. 379, Núm. 6632, pp. eabo3627

  4. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1

2021

  1. SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration

    Brain, Vol. 144, Núm. 9, pp. 2798-2811

2020

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

    Science, Vol. 370, Núm. 6515

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

    Science, Vol. 370, Núm. 6515

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

    Scientific Reports, Vol. 10, Núm. 1

2019

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

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

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

    PLoS Medicine, Vol. 15, Núm. 1

2017

  1. 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

2016

  1. Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

    Journal of Alzheimer's Disease, Vol. 53, Núm. 1, pp. 303-313