Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (8)

2023

  1. Genetic testing in focal segmental glomerulosclerosis: in whom and when?

    Clinical Kidney Journal, Vol. 16, Núm. 11, pp. 2011-2022

2021

  1. Molecular basis, diagnostic challenges and therapeutic approaches of alport syndrome: A primer for clinicians

    International Journal of Molecular Sciences, Vol. 22, Núm. 20

2020

  1. Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)

    Cerebellum, Vol. 19, Núm. 4, pp. 501-509

  2. Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

    Neuron, Vol. 107, Núm. 2, pp. 292-305.e6

2017

  1. Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

    Molecular Diagnosis and Therapy, Vol. 21, Núm. 3, pp. 303-313

  2. La ataxia espinocerebelosa 36 (SCA36): «Ataxia da Costa da Morte»

    Neurologia

2013

  1. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

    Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082

2009

  1. Clinical picture of a patient with a novel PSEN1 mutation (L424V)

    American Journal of Alzheimer's Disease and other Dementias, Vol. 24, Núm. 1, pp. 40-45