Publicaciones en colaboración con investigadores/as de Leiden University Medical Center (10)

2024

  1. A genome-wide association meta-analysis of all-cause and vascular dementia

    Alzheimer's and Dementia, Vol. 20, Núm. 9, pp. 5973-5995

  2. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis (Journal of Neurology, (2023), 270, 12, (5849-5865), 10.1007/s00415-023-11862-4)

    Journal of Neurology

2023

  1. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

    Journal of Neurology, Vol. 270, Núm. 12, pp. 5849-5865

2022

  1. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111

2020

  1. Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (Acta Neuropathologica, (2019), 138, 2, (237-250), 10.1007/s00401-019-02026-8)

    Acta Neuropathologica

2019

  1. A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

    Acta Neuropathologica, Vol. 138, Núm. 2, pp. 237-250

2016

  1. Double SMCHD1 variants in FSHD2: The synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

    European Journal of Human Genetics, Vol. 24, Núm. 1, pp. 78-85

2015

  1. Large-scale recent expansion of European patrilineages shown by population resequencing

    Nature Communications, Vol. 6

  2. The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades

    Molecular Biology and Evolution, Vol. 32, Núm. 3, pp. 661-673

1999

  1. Calpainopathy - A survey of mutations and polymorphisms

    American Journal of Human Genetics, Vol. 64, Núm. 6, pp. 1524-1540