AURELIO HERNÁNDEZ LAÍN-rekin lankidetzan egindako argitalpenak (7)

2022

  1. 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

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

2017

  1. Muscle fiber type proportion and size is not altered in mcardle disease

    Muscle and Nerve, Vol. 55, Núm. 6, pp. 916-918

  2. Myopathic mtDNA depletion syndrome due to mutation in TK2 Gene

    Pediatric and Developmental Pathology, Vol. 20, Núm. 5, pp. 416-420

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