Publicaciones en colaboración con investigadoras/es de Hospital General Universitario Gregorio Marañón (9)

2020

  1. Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease

    Medicina Clinica, Vol. 154, Núm. 3, pp. 80-85

2019

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

    Scientific Reports, Vol. 9, Núm. 1

  2. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561

  3. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders

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

    Scientific Reports, Vol. 8, Núm. 1

2016

  1. ALS: A bucket of genes, environment, metabolism and unknown ingredients

    Progress in Neurobiology, Vol. 142, pp. 104-129

2015

  1. Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

    Brain

2013

  1. Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

    Human Mutation, Vol. 34, Núm. 1, pp. 79-82