DiMauro S - Search Results

1

Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.

Shanske S, Moraes CT, Lombes A, Miranda AF, Bonilla E, Lewis P, Whelan MA, Ellsworth CA, DiMauro S. Shanske S, et al. Among authors: dimauro s. Neurology. 1990 Jan;40(1):24-8. doi: 10.1212/wnl.40.1.24. Neurology. 1990. PMID: 2296377

2

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: dimauro s. Arch Neurol. 2002 Jun;59(6):1013-5. doi: 10.1001/archneur.59.6.1013. Arch Neurol. 2002. PMID: 12056939

3

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: dimauro s. Arch Neurol. 2003 Jul;60(7):1007-9. doi: 10.1001/archneur.60.7.1007. Arch Neurol. 2003. PMID: 12873860

4

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.

Filosto M, Mancuso M, Vives-Bauza C, Vilà MR, Shanske S, Hirano M, Andreu AL, DiMauro S. Filosto M, et al. Among authors: dimauro s. Ann Neurol. 2003 Oct;54(4):524-6. doi: 10.1002/ana.10709. Ann Neurol. 2003. PMID: 14520667

5

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: dimauro s. J Child Neurol. 2004 Apr;19(4):258-61. doi: 10.1177/088307380401900403. J Child Neurol. 2004. PMID: 15163090

6

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.

Oskoui M, Davidzon G, Pascual J, Erazo R, Gurgel-Giannetti J, Krishna S, Bonilla E, De Vivo DC, Shanske S, DiMauro S. Oskoui M, et al. Among authors: dimauro s. Arch Neurol. 2006 Aug;63(8):1122-6. doi: 10.1001/archneur.63.8.1122. Arch Neurol. 2006. PMID: 16908738 Review.

7

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: dimauro s. J Child Neurol. 2007 Jul;22(7):858-62. doi: 10.1177/0883073807304199. J Child Neurol. 2007. PMID: 17715279

8

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: dimauro s. Arch Neurol. 2008 Mar;65(3):368-72. doi: 10.1001/archneurol.2007.67. Arch Neurol. 2008. PMID: 18332249

9

Deletions of mitochondrial DNA in Kearns-Sayre syndrome.

Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA, Rowland LP. Zeviani M, et al. Among authors: dimauro s. Neurology. 1988 Sep;38(9):1339-46. doi: 10.1212/wnl.38.9.1339. Neurology. 1988. PMID: 3412580

10

Immunocytochemical study of nebulin in Duchenne muscular dystrophy.

Bonilla E, Miranda AF, Prelle A, Salviati G, Betto R, Zeviani M, Schon EA, DiMauro S, Rowland LP. Bonilla E, et al. Among authors: dimauro s. Neurology. 1988 Oct;38(10):1600-3. doi: 10.1212/wnl.38.10.1600. Neurology. 1988. PMID: 3419605

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