Publicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (7)

2021

  1. Exome-wide rare variant analysis in familial essential tremor

    Parkinsonism and Related Disorders, Vol. 82, pp. 109-116

2018

  1. Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)

    Neurology, Vol. 91, Núm. 21, pp. E1988-E1998

  2. Pleiotropic effects of variants in dementia genes in Parkinson disease

    Frontiers in Neuroscience, Vol. 12, Núm. APR

  3. Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants

    Neurobiology of Aging, Vol. 66, pp. 177.e7-177.e10

2017

  1. TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    Human Mutation, Vol. 38, Núm. 3, pp. 297-309

2015

  1. MAPT H1 haplotype is associated with late-onset Alzheimer's disease risk in APOE ε 4 noncarriers: Results from the dementia genetics Spanish consortium

    Journal of Alzheimer's Disease, Vol. 49, Núm. 2, pp. 343-352

2014

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

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