Publicaciones en colaboración con investigadores/as de Hospital de la Santa Creu i Sant Pau (15)

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

2022

  1. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

    Annals of Neurology, Vol. 92, Núm. 5, pp. 793-806

2021

  1. Charcot–Marie–Tooth disease due to MORC2 mutations in Spain

    European Journal of Neurology, Vol. 28, Núm. 9, pp. 3001-3011

  2. Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation

    European Journal of Neurology, Vol. 28, Núm. 4, pp. 1334-1343

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

2019

  1. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 90, Núm. 5, pp. 576-585

2017

  1. Molecular characterization of congenital myasthenic syndromes in Spain

    Neuromuscular Disorders, Vol. 27, Núm. 12, pp. 1087-1098

2015

  1. Guidelines for monitoring late-onset Pompe disease

    Revista de Neurologia, Vol. 60, Núm. 7, pp. 321-328

  2. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

    Neuromuscular Disorders, Vol. 25, Núm. 7, pp. 548-553

2012

  1. Guía clínica de la enfermedad de pompe de inicio tardío

    Revista de Neurologia, Vol. 54, Núm. 8, pp. 497-507

  2. Guía diagnóstica en el paciente con enfermedad de Charcot-Marie-Tooth

    Neurologia

2008

  1. Characterization of novel CAPN3 isoforms in white blood cells: An alternative approach for limb-girdle muscular dystrophy 2A diagnosis

    Neurogenetics, Vol. 9, Núm. 3, pp. 173-182

2007

  1. Dysferlin expression in monocytes: A source of mRNA for mutation analysis

    Neuromuscular Disorders, Vol. 17, Núm. 1, pp. 69-76

2005

  1. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the spanish population

    Archives of Neurology, Vol. 62, Núm. 8, pp. 1256-1259

1999

  1. Hereditary distal myopathy in Valencia (Spain)

    Acta Myologica