H. Rivera

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

L. Pérez-Jurado, B. Merinero, M. Martínez-Pardo, 2010, Mitochondrion.

Whole‐Exome Sequencing Identifies a Variant of the Mitochondrial MT‐ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox–Gastaut Syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2013, Human mutation.

Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.

P. Navas, B. Bornstein, R. Artuch, 2009, Clinical biochemistry.

Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency

S. Seneca, J. Arenas, Miguel Ángel Martín, 2010, Human mutation.

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

R. Schwarzenbacher, D. Figarella-Branger, C. La Morgia, 2008, Brain : a journal of neurology.

Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.

B. Merinero, J. Arenas, Miguel Ángel Martín, 2010, Biochimica et biophysica acta.

Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase

J. Carretero, J. Arenas, Miguel Ángel Martín, 2007, Neuromuscular Disorders.

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2013, BMC Nephrology.