Diana Rodriguez

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

Anne-Sophie Lèbre, Marlène Rio, L. Faivre d'Arcier et al. · Journal of Medical Genetics · 2010 · 96 citations · Full text

A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome

Sophie Lebon, Diana Rodriguez, Delphine Bridoux et al. · Molecular Genetics and Metabolism · 2007 · 61 citations

Human Complex, Mendelian Disorder, Genetic Disorder +9

Aberrant Splicing of Exon 6 in the Pyruvate Denydrogenase-Elα mRNA Linked to a Silent Mutation in a Large Family with Leigh's Encephalomyelopathy

Linda De Meırleır, Willy Lissens, Chantal Benelli et al. · Pediatric Research · 1994 · 38 citations · Full text

Aberrant Splicing, Natural Sciences, Genetics +8

Clinical, biochemical, and molecular analysis of a maternally inherited case of Leight syndrome (MILS) associated with the mtDNA T8993G point mutation

Françoise Degoul, Monique Diry, Diana Rodriguez et al. · Journal of Inherited Metabolic Disease · 1995 · 22 citations