Publicaciones en las que colabora con Isabel Illa Sendra (14)

2020

  1. Genotype–phenotype correlations in recessive titinopathies

    Genetics in Medicine, Vol. 22, Núm. 12, pp. 2029-2040

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

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

    Neuromuscular Disorders, Vol. 26, Núm. 1, pp. 33-40

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

  3. Trunk muscle involvement in late-onset Pompe disease: Study of thirty patients

    Neuromuscular Disorders, Vol. 22, Núm. SUPPL. 2

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. Calpain deficiency in Spain and Aquitania

    Acta Myologica

  2. Hereditary distal myopathy in Valencia (Spain)

    Acta Myologica