Publikationen in Zusammenarbeit mit Forschern von University of Florence (14)

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. Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

    Neurobiology of Aging, Vol. 62, pp. 245.e1-245.e7

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

    PLoS Medicine, Vol. 15, Núm. 1

2017

  1. Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease

    Acta Neuropathologica, Vol. 134, Núm. 3, pp. 475-487

  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

2015

  1. Convergent genetic and expression data implicate immunity in Alzheimer's disease

    Alzheimer's and Dementia, Vol. 11, Núm. 6, pp. 658-671

2014

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

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

  2. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

    PLoS ONE, Vol. 9, Núm. 6

  3. Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

    Acta Neuropathologica, Vol. 128, Núm. 3, pp. 397-410

2013

  1. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

    Nature Genetics, Vol. 45, Núm. 12, pp. 1452-1458