A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder

Authors: Garone, Caterina, Gurgel-Giannetti, Juliana, Sanna-Cherchi, Simone, Krishna, Sindu, Naini, Ali, Quinzii, Catarina M., Hirano, Michio

Source: Journal of child neurology. 32(2):246-250

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Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations

Authors: Spiegel, Ronen, Gomez, Estela Area, Akman, Hasan O., Krishna, Sindu, Horovitz, Yoseph, DiMauro, Salvatore

Source: In Neuromuscular Disorders 2009 19(3):207-211

Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation

Authors: Mancuso, Michelangelo, Ferraris, Silvio, Nishigaki, Yutaka, Azan, Gaetano, Mauro, Alessandro, Sammarco, Piero, Krishna, Sindu, Tay, Stacey K.H., Bonilla, Eduardo, Romansky, Stephen G., Hirano, Michio, DiMauro, Salvatore ^*

Source: In Journal of the Neurological Sciences 2005 228(1):93-97

Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene

Authors: Mancuso, Michelangelo, Filosto, Massimiliano, Stevens, J.Clarke, Patterson, Marc, Shanske, Sara, Krishna, Sindu, DiMauro, Salvatore ^*

Source: In Journal of the Neurological Sciences 2003 209(1):61-63

Mitochondrial myopathy associated with a novel mutation in mtDNA

Authors: Pancrudo, Jacklyn, Shanske, Sara, Coku, Jorida, Lu, J., Mardach, Rebecca, Akman, Orhan, Krishna, Sindu, Bonilla, Eduardo, DiMauro, Salvatore

Source: In Neuromuscular Disorders 2007 17(8):651-654

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Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency.

Authors: Quinzii, Catarina M., López, Luis C., Von-Moltke, Jakob, Naini, Ali, Krishna, Sindu, Schuelke, Markus, Salviati, Leonardo, Navas, Plácido, DiMauro, Salvatore, Hirano, Michio

Source: FASEB Journal; Jun2008, Vol. 22 Issue 6, p1874-1885, 12p, 2 Diagrams, 3 Charts, 5 Graphs

Subject Terms: OXIDATIVE stress, ANTIOXIDANTS, GENETIC mutation, BIOENERGETICS, FIBROBLASTS, ADENOSINE triphosphate, CHEMICAL synthesis, REACTIVE oxygen species

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Mitochondrial Encephalomyopathy Due to a Novel Mutation in the tRNA^Glu of Mitochondrial DNA.

Authors: Pancrudo, Jacklyn, Shanske, Sara, Bonilla, Eduardo, Daras, Mariza, Akman, Hasan O., Krishna, Sindu, Malkin, Elfrida, Dimauro, Salvatore

Source: Journal of Child Neurology; Jul2007, Vol. 22 Issue 7, p858-862, 5p, 4 Diagrams

Subject Terms: MITOCHONDRIAL DNA, ATAXIA, LACTIC acid, BIOPSY, DEHYDROGENASES, TRANSFER RNA, GENES, NUCLEOTIDES, AMINO acids, MAGNETIC resonance imaging

Mitochondrial DNA Deletion in a Child With Megaloblastic Anemia and Recurrent Encephalopathy.

Authors: Akman, Cigdem Inan, Sue, Carolyn M., Shanske, Sara, Tanji, Kurenai, Bonilla, Eduardo, Ojaimi, Joceline, Krishna, Sindu, Schubert, Romaine, DiMauro, Salvatore

Source: Journal of Child Neurology; Apr2004, Vol. 19 Issue 4, p258-261, 4p, 2 Diagrams

Subject Terms: MITOCHONDRIAL DNA, BLOOD diseases, MITOCHONDRIA, SEPSIS, TRANSFER RNA, AMINO acids

Identical Mitochondrial DNA Deletion in a Woman with Ocular Myopathy and in Her Son with Pearson Syndrome

Authors: Shanske, Sara, Tang, Yingying, Hirano, Michio, Nishigaki, Yutaka, Tanji, Kurenai, Bonilla, Eduardo, Sue, Carolyn, Krishna, Sindu, Carlo, Jose R., Willner, Judith, Schon, Eric A., DiMauro, Salvatore

Source: In The American Journal of Human Genetics 2002 71(3):679-683

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

Authors: Papadopoulou, Lefkothea C., Sue, Carolyn M., Davidson, Mercy M., Tanji, Kurenai, Nishino, Ichizo, Sadlock, James E., Krishna, Sindu, Walker, Winsome, Selby, Jeanette, Glerum, D. Moira, Coster, Rudy Van, Lyon, Gilles, Scalais, Emmanuel, Lebel, Roger, Kaplan, Paige, Shanske, Sara, De Vivo, Darryl C., Bonilla, Eduardo, Hirano, Michio

Source: Nature Genetics; Nov99, Vol. 23 Issue 3, p333, 5p

Subject Terms: GENETIC mutation, GENES, CYTOCHROME oxidase

Membrane glycoprotein changes associated with anthracycline resistance in HL-60 cells.

Authors: Gervasoni, James, Taub, Robert, Rosado, Michelle, Krishna, Sindu, Stewart, Valerie, Knowles, Daniel, Bhalla, Kapil, Ross, Douglas, Baker, Michael, Lutzky, Jose, Hindenburg, Alexander, Gervasoni, J E Jr, Taub, R N, Rosado, M, Krishna, S, Stewart, V J, Knowles, D M, Bhalla, K, Ross, D D, Baker, M A

Source: Cancer Chemotherapy & Pharmacology; Mar1991, Vol. 28 Issue 2, p93-101, 9p

Subject Terms: ANTIGENS, ANTINEOPLASTIC antibiotics, CARCINOGENS, CELL lines, COMPARATIVE studies, CULTURES (Biology), DRUG resistance, ELECTROPHORESIS, GLYCOSYLATION, RESEARCH methodology, MEDICAL cooperation, NUCLEOSIDES, RADIOGRAPHY, RESEARCH, RESEARCH funding, TRETINOIN, PHENOTYPES, EVALUATION research, MYELOID leukemia, MEMBRANE glycoproteins, PHARMACODYNAMICS

Maternally Inherited Cardiomyopathy: An Atypical Presentation of the mtDNA 12S rRNA Gene A1555G Mutation

Authors: Santorelli, Filippo M., Tanji, Kurenai, Manta, Panagiota, Casali, Carlo, Krishna, Sindu, Hays, Arthur P., Mancini, Donna M., DiMauro, Salvatore, Hirano, Michio

Source: In The American Journal of Human Genetics 1999 64(1):295-300

A Splice Junction Mutation in the αMGene of Phosphorylase Kinase in a Patient with Myopathy

Authors: Bruno, Claudio, Manfredi, Giovanni, Andreu, Antonio L., Shanske, Sara, Krishna, Sindu, Ilse, Werner K., DiMauro, Salvatore

Source: Biochemical and Biophysical Research Communications; August 1998, Vol. 249 Issue: 3 p648-651, 4p