Publicaciones en colaboración con investigadores/as de Universidad Complutense de Madrid (9)

2024

  1. Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features

    Brain, Vol. 147, Núm. 8, pp. 2867-2883

2023

  1. Changes in Liver Lipidomic Profile in G2019S-LRRK2 Mouse Model of Parkinson’s Disease

    Cells, Vol. 12, Núm. 5

2022

  1. The parkinsonian LRRK2 R1441G mutation shows macroautophagy-mitophagy dysregulation concomitant with endoplasmic reticulum stress

    Cell Biology and Toxicology, Vol. 38, Núm. 5, pp. 889-911

2020

  1. Metabolic alterations in plasma from patients with familial and idiopathic Parkinson's disease

    Aging, Vol. 12, Núm. 17, pp. 16690-16708

2017

  1. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

  2. Quality of life in home-ventilated children and their families

    European Journal of Pediatrics, Vol. 176, Núm. 10, pp. 1307-1317

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. Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism

    American Journal of Human Genetics, Vol. 65, Núm. 5, pp. 1437-1448