Publicacions en col·laboració amb investigadors/es de Universitat de Barcelona (20)

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. A mammalian-specific Alex3/Gαq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival

    Science Signaling, Vol. 17, Núm. 822

  3. 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

  2. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    Genome medicine, Vol. 15, Núm. 1, pp. 68

  3. Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies

    Neurology: Genetics, Vol. 9, Núm. 4

  4. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

  5. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

2022

  1. Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment

    Medicine (United States), Vol. 101, Núm. 48, pp. E31471

  2. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

2021

  1. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  2. Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration

    Neuropathology and Applied Neurobiology, Vol. 47, Núm. 7, pp. 1092-1108

2020

  1. Genealogy of the neurodegenerative diseases based on a meta-analysis of age-stratified incidence data

    Scientific Reports, Vol. 10, Núm. 1

2018

  1. iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology

    Molecular Neurobiology, Vol. 55, Núm. 4, pp. 3033-3048

2017

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

    Scientific Reports, Vol. 7, Núm. 1

2015

  1. Clinical correlations with lewy body pathology in LRRK2-related Parkinson disease

    JAMA Neurology, Vol. 72, Núm. 1, pp. 100-105

2013

  1. Distinctive age-related temporal cortical thinning in asymptomatic granulin gene mutation carriers

    Neurobiology of Aging, Vol. 34, Núm. 5, pp. 1462-1468

2000

  1. Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accidents (MELAS) in pediatric age with the A3243G mutation in the tRNALeu(UUR) gene of mitochondrial DNA

    Revista de neurologia, Vol. 31, Núm. 9, pp. 804-811

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

1994

  1. CTG trinucleotide repeat variability in identical twins with myotonic dystrophy

    Annals of Neurology