Publicacións en colaboración con investigadores/as de Icahn School of Medicine at Mount Sinai (10)

2022

  1. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

2020

  1. Genealogy of the neurodegenerative diseases based on a meta-analysis of age-stratified incidence data

    Scientific Reports, Vol. 10, Núm. 1

2017

  1. Progressive changes in non-coding RNA profile in leucocytes with age

    Aging, Vol. 9, Núm. 4, pp. 1202-1218

2016

  1. SncRNA (microRNA &snoRNA) opposite expression pattern found in multiple sclerosis relapse and remission is sex dependent

    Scientific Reports, Vol. 6

2015

  1. Age gene expression and coexpression progressive signatures in peripheral blood leukocytes

    Experimental Gerontology, Vol. 72, pp. 50-56

  2. SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor

    ASN neuro, Vol. 7, Núm. 4

2014

  1. Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

    Muscle and Nerve, Vol. 50, Núm. 3, pp. 448-453

2013

  1. The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

    Journal of Molecular Medicine, Vol. 91, Núm. 12, pp. 1399-1406

2012

  1. Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

    Human Genetics, Vol. 131, Núm. 3, pp. 435-442

2010

  1. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

    Nature Genetics, Vol. 42, Núm. 3, pp. 234-239