Sue CM - Search Results

1

Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.

Karadimas CL, Greenstein P, Sue CM, Joseph JT, Tanji K, Haller RG, Taivassalo T, Davidson MM, Shanske S, Bonilla E, DiMauro S. Karadimas CL, et al. Among authors: sue cm. Neurology. 2000 Sep 12;55(5):644-9. doi: 10.1212/wnl.55.5.644. Neurology. 2000. PMID: 10980727

2

Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.

Crimmins D, Morris JG, Walker GL, Sue CM, Byrne E, Stevens S, Jean-Francis B, Yiannikas C, Pamphlett R. Crimmins D, et al. Among authors: sue cm. J Neurol Neurosurg Psychiatry. 1993 Aug;56(8):900-5. doi: 10.1136/jnnp.56.8.900. J Neurol Neurosurg Psychiatry. 1993. PMID: 8350109 Free PMC article.

3

Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation.

Sue CM, Mitchell P, Crimmins DS, Moshegov C, Byrne E, Morris JG. Sue CM, et al. Neurology. 1997 Oct;49(4):1013-7. doi: 10.1212/wnl.49.4.1013. Neurology. 1997. PMID: 9339682

4

A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria.

Andreu AL, Bruno C, Dunne TC, Tanji K, Shanske S, Sue CM, Krishna S, Hadjigeorgiou GM, Shtilbans A, Bonilla E, DiMauro S. Andreu AL, et al. Among authors: sue cm. Ann Neurol. 1999 Jan;45(1):127-30. doi: 10.1002/1531-8249(199901)45:1<127::aid-art20>3.0.co;2-y. Ann Neurol. 1999. PMID: 9894887

5

Neonatal presentations of mitochondrial metabolic disorders.

Sue CM, Hirano M, DiMauro S, De Vivo DC. Sue CM, et al. Semin Perinatol. 1999 Apr;23(2):113-24. doi: 10.1016/s0146-0005(99)80045-7. Semin Perinatol. 1999. PMID: 10331464 Free article. Review.

6

Infantile encephalopathy associated with the MELAS A3243G mutation.

Sue CM, Bruno C, Andreu AL, Cargan A, Mendell JR, Tsao CY, Luquette M, Paolicchi J, Shanske S, DiMauro S, De Vivo DC. Sue CM, et al. J Pediatr. 1999 Jun;134(6):696-700. doi: 10.1016/s0022-3476(99)70283-0. J Pediatr. 1999. PMID: 10356136 Free article.

7

Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene.

Andreu AL, Tanji K, Bruno C, Hadjigeorgiou GM, Sue CM, Jay C, Ohnishi T, Shanske S, Bonilla E, DiMauro S. Andreu AL, et al. Among authors: sue cm. Ann Neurol. 1999 Jun;45(6):820-3. doi: 10.1002/1531-8249(199906)45:6<820::aid-ana22>3.0.co;2-w. Ann Neurol. 1999. PMID: 10360780

8

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.

Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMauro S, Friedman R. Sue CM, et al. Neurology. 1999 Jun 10;52(9):1905-8. doi: 10.1212/wnl.52.9.1905. Neurology. 1999. PMID: 10371545

9

A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

Bruno C, Martinuzzi A, Tang Y, Andreu AL, Pallotti F, Bonilla E, Shanske S, Fu J, Sue CM, Angelini C, DiMauro S, Manfredi G. Bruno C, et al. Among authors: sue cm. Am J Hum Genet. 1999 Sep;65(3):611-20. doi: 10.1086/302546. Am J Hum Genet. 1999. PMID: 10441567 Free PMC article.

10

Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.

Hadjigeorgiou GM, Kawashima N, Bruno C, Andreu AL, Sue CM, Rigden DJ, Kawashima A, Shanske S, DiMauro S. Hadjigeorgiou GM, et al. Among authors: sue cm. Neuromuscul Disord. 1999 Oct;9(6-7):399-402. doi: 10.1016/s0960-8966(99)00039-5. Neuromuscul Disord. 1999. PMID: 10545043

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