Publicaciones en las que colabora con Carmen Espinós (7)

2021

  1. Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients

    Stem Cell Research, Vol. 53

2016

  1. Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Mitochondrion, Vol. 30, pp. 51-58

2015

  1. Molecular diagnosis of coenzyme Q10 deficiency

    Expert Review of Molecular Diagnostics, Vol. 15, Núm. 8, pp. 1049-1059

2014

  1. Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency

    BMC Pediatrics, Vol. 14, Núm. 1

  2. Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency

    Journal of Inherited Metabolic Disease, Vol. 37, Núm. 1, pp. 53-62

2010

  1. Coenzyme Q10-responsive ataxia: 2-Year-treatment follow-up

    Movement Disorders, Vol. 25, Núm. 9, pp. 1262-1268

2006

  1. Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

    Journal of the Neurological Sciences, Vol. 246, Núm. 1-2, pp. 153-158