Bonilla E - 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: 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.

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

A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.

Tanji K, Kaufmann P, Naini AB, Lu J, Parsons TC, Wang D, Willey JZ, Shanske S, Hirano M, Bonilla E, Khandji A, Dimauro S, Rowland LP. Tanji K, et al. Among authors: bonilla e. J Neurol Sci. 2008 Jul 15;270(1-2):23-7. doi: 10.1016/j.jns.2008.01.016. Epub 2008 Mar 7. J Neurol Sci. 2008. PMID: 18314141 Free PMC article.

4

A functionally dominant mitochondrial DNA mutation.

Sacconi S, Salviati L, Nishigaki Y, Walker WF, Hernandez-Rosa E, Trevisson E, Delplace S, Desnuelle C, Shanske S, Hirano M, Schon EA, Bonilla E, De Vivo DC, DiMauro S, Davidson MM. Sacconi S, et al. Among authors: bonilla e. Hum Mol Genet. 2008 Jun 15;17(12):1814-20. doi: 10.1093/hmg/ddn073. Epub 2008 Mar 12. Hum Mol Genet. 2008. PMID: 18337306 Free PMC article.

5

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.

Akman HO, Dorado B, López LC, García-Cazorla A, Vilà MR, Tanabe LM, Dauer WT, Bonilla E, Tanji K, Hirano M. Akman HO, et al. Among authors: bonilla e. Hum Mol Genet. 2008 Aug 15;17(16):2433-40. doi: 10.1093/hmg/ddn143. Epub 2008 May 8. Hum Mol Genet. 2008. PMID: 18467430 Free PMC article.

6

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

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 abnormalities in muscle and other aging cells: classification, causes, and effects.

DiMauro S, Tanji K, Bonilla E, Pallotti F, Schon EA. DiMauro S, et al. Among authors: bonilla e. Muscle Nerve. 2002 Nov;26(5):597-607. doi: 10.1002/mus.10194. Muscle Nerve. 2002. PMID: 12402281 Review.

9

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

10

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

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