DiMauro S - 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: dimauro s. 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

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 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: dimauro s. Neuromuscul Disord. 2002 Nov;12(9):865-8. doi: 10.1016/s0960-8966(02)00072-x. Neuromuscul Disord. 2002. PMID: 12398839 Clinical Trial.

4

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. Muscle Nerve. 2002 Nov;26(5):597-607. doi: 10.1002/mus.10194. Muscle Nerve. 2002. PMID: 12402281 Review.

5

Mitochondrial diseases.

Vu TH, Hirano M, DiMauro S. Vu TH, et al. Among authors: dimauro s. Neurol Clin. 2002 Aug;20(3):809-39, vii-viii. doi: 10.1016/s0733-8619(01)00017-2. Neurol Clin. 2002. PMID: 12432831 Review.

6

Mitochondrial respiratory-chain diseases.

DiMauro S, Schon EA. DiMauro S, et al. N Engl J Med. 2003 Jun 26;348(26):2656-68. doi: 10.1056/NEJMra022567. N Engl J Med. 2003. PMID: 12826641 Review. No abstract available.

7

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

8

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

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

10

Mitochondrial encephalomyopathies: an update.

DiMauro S, Hirano M. DiMauro S, et al. Neuromuscul Disord. 2005 Apr;15(4):276-86. doi: 10.1016/j.nmd.2004.12.008. Neuromuscul Disord. 2005. PMID: 15792866 Review.

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