Publicacións en colaboración con investigadores/as de David Geffen School of Medicine at UCLA (4)

2020

  1. Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

    Neuron, Vol. 107, Núm. 2, pp. 292-305.e6

2017

  1. Prevalence of spinocerebellar ataxia 36 in a US population

    Neurology: Genetics, Vol. 3, Núm. 4

2015

  1. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

    Nature Genetics, Vol. 47, Núm. 6, pp. 579-581

2013

  1. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Neurogenetics, Vol. 14, Núm. 1, pp. 11-22