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Annals of Neurology|July 1, 1993
Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observationsB Koo, L E Becker, S Chuang, et al.
American Journal of Medical Genetics. Part A|March 3, 2004
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotypeMark A Tarnopolsky, J M Bourgeois, M-H Fu, et al.
Annals of Neurology|March 11, 1999
Stroke-like episodes in autosomal recessive cytochrome oxidase deficiencyC Morin, J Dubé, B H Robinson, et al.
American Journal of Human Genetics|January 13, 2001
A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16N Lee, M J Daly, T Delmonte, et al.
American Journal of Human Genetics|January 13, 2001
A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13A Seyda, R F Newbold, T J Hudson, et al.
European Journal of Pediatrics|October 1, 1988
3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normalK M Gibson, W L Nyhan, L Sweetman, et al.
American Journal of Medical Genetics|April 15, 1994
Barth syndrome: clinical observations and genetic linkage studiesJ Christodoulou, R R McInnes, V Jay, et al.
The Journal of Thoracic and Cardiovascular Surgery|September 10, 1998
Insulin stimulates pyruvate dehydrogenase and protects human ventricular cardiomyocytes from simulated ischemiaV Rao, F Merante, R D Weisel, et al.
Neuropediatrics|July 2, 2009
A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosisE W Y Tam, A Feigenbaum, J B L Addis, et al.
American Journal of Human Genetics|June 19, 1998
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutationsM A Carbone, N MacKay, M Ling, et al.
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