Publicaciones en colaboración con investigadores/as de University of Pennsylvania (12)

2021

  1. SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration

    Brain, Vol. 144, Núm. 9, pp. 2798-2811

2020

  1. Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

    Scientific Reports, Vol. 9, Núm. 1

  2. Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

    Nature Medicine, Vol. 25, Núm. 1, pp. 152-164

2018

  1. A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

    Brain, Vol. 141, Núm. 10, pp. 2895-2907

  2. CXCR4 involvement in neurodegenerative diseases

    Translational Psychiatry, Vol. 8, Núm. 1

  3. Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

    PLoS Medicine, Vol. 15, Núm. 1

2017

  1. Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 88, Núm. 2, pp. 152-164

  2. Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

    Scientific Reports, Vol. 7, Núm. 1

2014

  1. Frontotemporal dementia and its subtypes: A genome-wide association study

    The Lancet Neurology, Vol. 13, Núm. 7, pp. 686-699

2011

  1. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

    Nature Genetics

2003

  1. Anion exchanger 2 is essential for spermiogenesis in mice

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 100, Núm. 26, pp. 15847-15852