Graziella Uziel

Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

Valeria Tiranti, Konstanze Hoertnagel, Rosalba Carrozzo et al. · The American Journal of Human Genetics · 1998 · 525 citations · Full text

Mendelian Disorder, Disease Mechanism, Genetic Disorder +9

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Gert C. Scheper, Thom van der Klok, Rob J. van Andel et al. · Nature Genetics · 2007 · 450 citations

Amyotrophic Lateral Sclerosis, Mitochondrial Function, Neurological Disorder +13

Cytochrome <i>c</i> oxidase deficiency in leigh syndrome

Salvatore DiMauro, Serenella Servidei, Massimo Zeviani et al. · Annals of Neurology · 1987 · 363 citations

Clinical and molecular findings in children with complex I deficiency

Marianna Bugiani, Federica Invernizzi, Simona Alberio et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2004 · 259 citations

Down Syndrome, Primary Immunodeficiency, Developmental Anomaly +10

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Tobias B. Haack, Katharina Danhauser, Birgit Haberberger et al. · Nature Genetics · 2010 · 248 citations

Mendelian Disorder, Identifies Acad9 Mutations, Genetic Disorder +8