Publicacións en colaboración con investigadores/as de Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (5)

2022

  1. Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson’s disease

    Molecular Neurodegeneration, Vol. 17, Núm. 1

2021

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

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

2018

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

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

2016

  1. 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