Publicacións en colaboración con investigadores/as de David Geffen School of Medicine at UCLA (15)

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

  2. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

    Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082

2012

  1. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

    Nature Genetics, Vol. 44, Núm. 6, pp. 704-708

2009

  1. A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

    Human Molecular Genetics, Vol. 18, Núm. 13, pp. 2370-2377

2007

  1. Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease")

    Journal of Molecular Neuroscience, Vol. 33, Núm. 2, pp. 151-154

2004

  1. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)

    Neurology, Vol. 63, Núm. 11, pp. 2165-2167

2003

  1. Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementia

    Archives of Neurology, Vol. 60, Núm. 5, pp. 698-702

  2. Possible association of the tau H1/H1 genotype with primary progressive aphasia

    Neurology, Vol. 60, Núm. 5, pp. 862-864

2001

  1. SCA8 repeat expansions in ataxia: A controversial association

    Neurology, Vol. 57, Núm. 7, pp. 1310-1312

  2. The SCA12 mutation as a rare cause of spinocerebellar ataxia

    Archives of Neurology, Vol. 58, Núm. 11, pp. 1833-1835

2000

  1. Molecular genetics and inherited ataxias: Redefining phenotypes and pathogenesis

    Neuroscientist, Vol. 6, Núm. 6, pp. 465-474

  2. The genetics of frontotemporal dementia and related disorders

    Current Genomics, Vol. 1, Núm. 4, pp. 339-352