John M. Shoffner

Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

Marisol Corral‐Debrinski, Terzah M. Horton, Marie T. Lott et al. · Nature Genetics · 1992 · 886 citations

Life Sciences, Genetics, Neuroscience +16

Oxidative damage to mitochondrial DNA shows marked age‐dependent increases in human brain

Patrizia Mecocci, Usha MacGarvey, A. Kaufman et al. · Annals of Neurology · 1993 · 757 citations

Life Sciences, Genetics, Neuroscience +15

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

Scott W. Ballinger, John M. Shoffner, Ellis V. Hedaya et al. · Nature Genetics · 1992 · 616 citations

Life Sciences, Genetics, Molecular Genetics +12

Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

Douglas C. Wallace, Xianxian Zheng, Marie T. Lott et al. · Cell · 1988 · 575 citations

Life Sciences, Genetics, Neurology +16

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.

John M. Shoffner, Marie T. Lott, Alexander S. Voljavec et al. · Proceedings of the National Academy of Sciences · 1989 · 507 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17