Publicaciones en colaboración con investigadoras/es de Hospital Universitario de Valme (20)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

2023

  1. Effectiveness and Safety of Teriflunomide in Relapsing–Remitting Multiple Sclerosis and Improvements in Quality of Life: Results from the Real-World TERICARE Study

    Neurology and Therapy, Vol. 12, Núm. 6, pp. 2177-2193

  2. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

    Neurologia, Vol. 38, Núm. 6, pp. 379-386

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

    Nature communications

  4. Planificación familiar en hombres y mujeres con esclerosis múltiple. Análisis del Registro Andaluz (2018-2022)

    Revista de neurologia, Vol. 76, Núm. 12, pp. 377-383

2022

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

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

2021

  1. Clinical characteristics and outcomes of thymoma-associated myasthenia gravis

    European Journal of Neurology, Vol. 28, Núm. 6, pp. 2083-2091

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

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

  3. Long runs of homozygosity are associated with Alzheimer’s disease

    Translational Psychiatry, Vol. 11, Núm. 1

2019

  1. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

    Alzheimer's and Dementia, Vol. 15, Núm. 10, pp. 1333-1347

  2. PDGF-BB serum levels are decreased in adult onset Pompe patients

    Scientific Reports, Vol. 9, Núm. 1

  3. Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT

    Molecular Genetics and Metabolism, Vol. 128, Núm. 1-2, pp. 129-136

2018

  1. CCR-CARESS score for predicting operative mortality in patients with colorectal cancer

    British Journal of Surgery, Vol. 105, Núm. 13, pp. 1853-1861

  2. Quantitative muscle MRI to follow up late onset Pompe patients: A prospective study

    Scientific Reports, Vol. 8, Núm. 1

2016

  1. Colorectal cancer health services research study protocol: The CCR-CARESS observational prospective cohort project

    BMC Cancer, Vol. 16, Núm. 1

2012

  1. Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia

    Journal of Neurology, Vol. 259, Núm. 2, pp. 246-250

2011

  1. HLA-DRB1 typing in caucasians patients with neuromyelitis optica

    Revista de Neurologia, Vol. 53, Núm. 3, pp. 146-152

2010

  1. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962

2002

  1. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

    Human Molecular Genetics, Vol. 11, Núm. 9, pp. 1119-1128

1999

  1. Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene

    Archives of Neurology, Vol. 56, Núm. 8, pp. 1004-1009