Publicaciones en colaboración con investigadores/as de Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (8)

2021

  1. Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

    JAMA Neurology, Vol. 78, Núm. 10, pp. 1236-1248

  2. Pathogenetic and prognostic implications of increased mitochondrial content in multiple myeloma

    Cancers, Vol. 13, Núm. 13

  3. Sin título en SCOPUS

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 118, Núm. 12

2019

  1. Prevalence, geographic risk factor, and development of a standardized protocol for fungal isolation in cystic fibrosis: Results from the international prospective study “MFIP”

    Journal of Cystic Fibrosis, Vol. 18, Núm. 2, pp. 212-220

2018

  1. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    Neuron, Vol. 97, Núm. 6, pp. 1268-1283.e6

2016

  1. Genomic and functional analyses unveil the response to hyphal wall stress in Candida albicans cells lacking β(1,3)-glucan remodeling

    BMC Genomics, Vol. 17, Núm. 1

  2. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

    Nature Genetics, Vol. 48, Núm. 9, pp. 1037-1042

2014

  1. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS

    Neuron, Vol. 84, Núm. 2, pp. 324-331