Antonio L. Andreu

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene

S. Dimauro, I. Nishino, C. Bruno, 1999, Neurology.

Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.

MartíRamon, J. Barquinero, R. Martí, 2016, Human gene therapy.

Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.

N. Bresolin, S. Dimauro, E. Schon, 2000, American journal of human genetics.

A new mitochondrial DNA mutation (A3288G) in the tRNALeu(UUR) gene associated with familial myopathy

S. Dimauro, K. Fischbeck, G. Hadjigeorgiou, 1999, Journal of the Neurological Sciences.

Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene

S. Dimauro, C. Bruno, E. Bonilla, 1999, Annals of neurology.

A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2

A. Meseguer, J. Gámez, M. Hirano, 2003, Neurology.

Autosomal dominant limb-girdle muscular dystrophy

S. Dimauro, A. Andreu, J. Gámez, 2001, Neurology.

Infusion of platelets transiently reduces nucleoside overload in MNGIE

Y. Anikster, B. Weiss, A. Andreu, 2006, Neurology.