Bonilla E - Search Results

1

High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy.

Manfredi G, Servidei S, Bonilla E, Shanske S, Schon EA, DiMauro S, Moraes CT. Manfredi G, et al. Among authors: bonilla e. Neurology. 1995 Apr;45(4):762-8. doi: 10.1212/wnl.45.4.762. Neurology. 1995. PMID: 7723967

2

Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.

Pancrudo J, Shanske S, Bonilla E, Daras M, Akman HO, Krishna S, Malkin E, DiMauro S. Pancrudo J, et al. Among authors: bonilla e. J Child Neurol. 2007 Jul;22(7):858-62. doi: 10.1177/0883073807304199. J Child Neurol. 2007. PMID: 17715279

3

The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.

Shanske S, Coku J, Lu J, Ganesh J, Krishna S, Tanji K, Bonilla E, Naini AB, Hirano M, DiMauro S. Shanske S, et al. Among authors: bonilla e. Arch Neurol. 2008 Mar;65(3):368-72. doi: 10.1001/archneurol.2007.67. Arch Neurol. 2008. PMID: 18332249

4

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.

Salviati L, Sacconi S, Rasalan MM, Kronn DF, Braun A, Canoll P, Davidson M, Shanske S, Bonilla E, Hays AP, Schon EA, DiMauro S. Salviati L, et al. Among authors: bonilla e. Arch Neurol. 2002 May;59(5):862-5. doi: 10.1001/archneur.59.5.862. Arch Neurol. 2002. PMID: 12020273

5

Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.

Sacconi S, Salviati L, Gooch C, Bonilla E, Shanske S, DiMauro S. Sacconi S, et al. Among authors: bonilla e. Arch Neurol. 2002 Jun;59(6):1013-5. doi: 10.1001/archneur.59.6.1013. Arch Neurol. 2002. PMID: 12056939

6

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: bonilla e. 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.

7

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.

Karadimas CL, Salviati L, Sacconi S, Chronopoulou P, Shanske S, Bonilla E, De Vivo DC, DiMauro S. Karadimas CL, et al. Among authors: bonilla e. Neuromuscul Disord. 2002 Nov;12(9):865-8. doi: 10.1016/s0960-8966(02)00072-x. Neuromuscul Disord. 2002. PMID: 12398839 Clinical Trial.

8

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.

Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S. Mancuso M, et al. Among authors: bonilla e. Arch Neurol. 2003 Jul;60(7):1007-9. doi: 10.1001/archneur.60.7.1007. Arch Neurol. 2003. PMID: 12873860

9

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. Among authors: bonilla e. J Child Neurol. 2004 Apr;19(4):258-61. doi: 10.1177/088307380401900403. J Child Neurol. 2004. PMID: 15163090

10

Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.

Tay SK, Nesti C, Mancuso M, Schon EA, Shanske S, Bonilla E, Davidson MM, Dimauro S. Tay SK, et al. Among authors: bonilla e. Arch Neurol. 2004 Dec;61(12):1935-7. doi: 10.1001/archneur.61.12.1935. Arch Neurol. 2004. PMID: 15596615

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