Publicacions en què col·labora amb Cristina Domínguez González (10)

2024

  1. Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation

    Neuroradiology, Vol. 66, Núm. 3, pp. 389-398

2023

  1. High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome

    European Journal of Neurology, Vol. 30, Núm. 2, pp. 538-547

2022

  1. Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)

    Genes, Vol. 13, Núm. 10

  2. Clinical, histological, and genetic features of 25 patients with autosomal dominant progressive external ophthalmoplegia (Ad-PEO)/PEO-plus due to TWNK mutations

    Journal of Clinical Medicine, Vol. 11, Núm. 1

  3. Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study

    Neuromuscular Disorders, Vol. 32, Núm. 9, pp. 728-735

2020

  1. A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues

    Mitochondrion, Vol. 50, pp. 14-18

2018

  1. Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders

    Medicine and Science in Sports and Exercise, Vol. 50, Núm. 6, pp. 1142-1151

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

    Mitochondrion, Vol. 30, pp. 51-58

2015

  1. A novel RRM2B gene variant associated with Telbivudine-induced mitochondrial myopathy

    Journal of the Neurological Sciences