Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (7)

2019

  1. Bethlem myopathy: a series of 16 patients and description of seven new associated mutations

    Journal of Neurology, Vol. 266, Núm. 4, pp. 934-941

2016

  1. A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation

    Muscle and Nerve, Vol. 54, Núm. 4, pp. 806-808

  2. Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

    Neuromuscular Disorders, Vol. 26, Núm. 11, pp. 749-753

2015

  1. Corrigendum to "Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations" [Front. Genet., 6 (2015) 102] DOI:10.3389/fgene.2015.00102

    Frontiers in Genetics

  2. Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

    Frontiers in Genetics, Vol. 6, Núm. MAR

2014

  1. Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

    Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1

  2. The early detection of Salla disease through second-tier tests in newborn screening: How to face incidental findings

    European Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 527-531