Sue C - Search Results

1

Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.

Shanske S, Tang Y, Hirano M, Nishigaki Y, Tanji K, Bonilla E, Sue C, Krishna S, Carlo JR, Willner J, Schon EA, DiMauro S. Shanske S, et al. Among authors: sue c. Am J Hum Genet. 2002 Sep;71(3):679-83. doi: 10.1086/342482. Epub 2002 Jul 31. Am J Hum Genet. 2002. PMID: 12152148 Free PMC article.

2

Mutation screening in patients with isolated cytochrome c oxidase deficiency.

Sacconi S, Salviati L, Sue CM, Shanske S, Davidson MM, Bonilla E, Naini AB, De Vivo DC, DiMauro S. Sacconi S, et al. Among authors: sue cm. Pediatr Res. 2003 Feb;53(2):224-30. doi: 10.1203/01.PDR.0000048100.91730.6A. Pediatr Res. 2003. PMID: 12538779

3

Mitochondrial DNA abnormalities and autistic spectrum disorders.

Pons R, Andreu AL, Checcarelli N, Vilà MR, Engelstad K, Sue CM, Shungu D, Haggerty R, de Vivo DC, DiMauro S. Pons R, et al. Among authors: sue cm. J Pediatr. 2004 Jan;144(1):81-5. doi: 10.1016/j.jpeds.2003.10.023. J Pediatr. 2004. PMID: 14722523

4

Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy.

Akman CI, Sue CM, Shanske S, Tanji K, Bonilla E, Ojaimi J, Krishna S, Schubert R, DiMauro S. Akman CI, et al. J Child Neurol. 2004 Apr;19(4):258-61. doi: 10.1177/088307380401900403. J Child Neurol. 2004. PMID: 15163090

5

Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein.

Williams JC, Sue C, Banting GS, Yang H, Glerum DM, Hendrickson WA, Schon EA. Williams JC, et al. Among authors: sue c. J Biol Chem. 2005 Apr 15;280(15):15202-11. doi: 10.1074/jbc.M410705200. Epub 2005 Jan 19. J Biol Chem. 2005. PMID: 15659396 Free article.

6

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.

Péquignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C. Péquignot MO, et al. Among authors: sue c. Hum Mutat. 2001 May;17(5):374-81. doi: 10.1002/humu.1112. Hum Mutat. 2001. PMID: 11317352

7

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.

Rudaks LI, Watson E, Oboudiyat C, Kumar KR, Sullivan P, Cowley MJ, Davis RL, Sue CM. Rudaks LI, et al. Among authors: sue cm. Am J Med Genet A. 2022 Jul;188(7):2226-2230. doi: 10.1002/ajmg.a.62755. Epub 2022 Apr 8. Am J Med Genet A. 2022. PMID: 35393742 Free PMC article.

8

Genetic mimics of cerebral palsy.

Pearson TS, Pons R, Ghaoui R, Sue CM. Pearson TS, et al. Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26. Mov Disord. 2019. PMID: 30913345 Review.

9

The genetics of mitochondrial disease.

Davis RL, Sue CM. Davis RL, et al. Semin Neurol. 2011 Nov;31(5):519-30. doi: 10.1055/s-0031-1299790. Epub 2012 Jan 21. Semin Neurol. 2011. PMID: 22266889 Review.

10

The impact of device-assisted therapies on the gut microbiome in Parkinson's disease.

Lubomski M, Xu X, Holmes AJ, Yang JYH, Sue CM, Davis RL. Lubomski M, et al. J Neurol. 2022 Feb;269(2):780-795. doi: 10.1007/s00415-021-10657-9. Epub 2021 Jun 15. J Neurol. 2022. PMID: 34128115

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