Publicaciones en colaboración con investigadores/as de Newcastle University (7)

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

    Nature communications

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

2021

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

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

2020

  1. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488

2011

  1. Eosinophilic infiltration related to CAPN3 mutations: A pathophysiological component of primary calpainopathy?

    Clinical Genetics

1999

  1. Calpainopathy - A survey of mutations and polymorphisms

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