Publicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (8)

2023

  1. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia

    European Journal of Neurology, Vol. 30, Núm. 12, pp. 3828-3833

2022

  1. Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement

    iScience, Vol. 25, Núm. 6

  2. Pseudoathetosis and Pseudodystonia in Sensory Ganglionopathy Due to Anti-Amphiphysin and Anti-Hu Antibodies: A Rare Presentation Underlying a Neoplastic Etiology

    Movement Disorders Clinical Practice

2016

  1. DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2R1441G Parkinson's disease

    Movement Disorders, Vol. 31, Núm. 3, pp. 335-343

2015

  1. GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment

    Journal of Human Genetics, Vol. 60, Núm. 10, pp. 637-640

2013

  1. The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

    Journal of Molecular Medicine, Vol. 91, Núm. 12, pp. 1399-1406

2012

  1. Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

    Human Genetics, Vol. 131, Núm. 3, pp. 435-442

  2. α-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers

    PLoS ONE, Vol. 7, Núm. 12