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American Journal of Human Genetics|May 1, 1996
Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A)F M Santorelli, S C Mak, M El-Schahawi, et al.Annals of Neurology|August 1, 1997
Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp geneF M Santorelli, K Tanji, M Sano, et al.European Journal of Clinical Investigation|December 12, 2001
Glutathione in blood of patients with Friedreich's ataxiaF Piemonte, A Pastore, G Tozzi, et al.Annals of Neurology|December 16, 1998
The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the pastF M Santorelli, K Tanji, S Shanske, et al.Neurology|February 26, 2000
mtDNA A3243G MELAS mutation is not associated with multigenerational female migraineM G Buzzi, G Di Gennaro, M D'Onofrio, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|July 7, 1999
Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature reviewM E Damore, P W Speiser, A E Slonim, et al.Neurology|January 27, 1998
Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogenesesR Carrozzo, M Hirano, B Fromenty, et al.Biochemical and Biophysical Research Communications|November 30, 2000
Uncoupling protein-1 mRNA expression in lipomas from patients bearing pathogenic mitochondrial DNA mutationsM R Vilà, J Gámez, A Solano, et al.Neuromuscular Disorders : NMD|May 1, 1997
Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathyF M Santorelli, G Siciliano, C Casali, et al.Journal of Neurology, Neurosurgery, and Psychiatry|May 18, 2004
DNA end labelling (TUNEL) in a 3 year old girl with Leigh syndrome and prevalent cortical involvementP Formichi, A Malandrini, C Battisti, et al.Pageof 13