DiMauro S - Search Results

1

Leber hereditary optic neuropathy: biochemical lights in a blurry scenario.

Hirano M, DiMauro S. Hirano M, et al. Among authors: dimauro s. Arch Neurol. 2005 May;62(5):711-2. doi: 10.1001/archneur.62.5.711. Arch Neurol. 2005. PMID: 15883256 No abstract available.

2

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

3

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.

Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S. Filosto M, et al. Among authors: dimauro s. Arch Neurol. 2003 Sep;60(9):1279-84. doi: 10.1001/archneur.60.9.1279. Arch Neurol. 2003. PMID: 12975295

4

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, Hirano M, DiMauro S. Naini AB, et al. Among authors: dimauro s. Arch Neurol. 2005 Mar;62(3):473-6. doi: 10.1001/archneur.62.3.473. Arch Neurol. 2005. PMID: 15767514

5

A polymorphic polymerase.

DiMauro S, Davidzon G, Hirano M. DiMauro S, et al. Brain. 2006 Jul;129(Pt 7):1637-9. doi: 10.1093/brain/awl169. Brain. 2006. PMID: 16803839 Review. No abstract available.

6

Pedaling from genotype to phenotype.

Dimauro S, Hirano M. Dimauro S, et al. Arch Neurol. 2006 Dec;63(12):1679-80. doi: 10.1001/archneur.63.12.1679. Arch Neurol. 2006. PMID: 17172605 No abstract available.

7

Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

Ferraris S, Clark S, Garelli E, Davidzon G, Moore SA, Kardon RH, Bienstock RJ, Longley MJ, Mancuso M, Gutiérrez Ríos P, Hirano M, Copeland WC, DiMauro S. Ferraris S, et al. Among authors: dimauro s. Arch Neurol. 2008 Jan;65(1):125-31. doi: 10.1001/archneurol.2007.9. Arch Neurol. 2008. PMID: 18195150 Free PMC article.

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

Amyotrophic lateral sclerosis with ragged-red fibers.

Hirano M, Angelini C, Montagna P, Hays AP, Tanji K, Mitsumoto H, Gordon PH, Naini AB, DiMauro S, Rowland LP. Hirano M, et al. Among authors: dimauro s. Arch Neurol. 2008 Mar;65(3):403-6. doi: 10.1001/archneurol.2007.65. Arch Neurol. 2008. PMID: 18332255 Review.

10

Protean phenotypic features of the A3243G mitochondrial DNA mutation.

Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Battista V, Koenigsberger DY, Pascual JM, Sano M, Hirano M, DiMauro S, Shungu DC, Mao X, De Vivo DC. Kaufmann P, et al. Among authors: dimauro s. Arch Neurol. 2009 Jan;66(1):85-91. doi: 10.1001/archneurol.2008.526. Arch Neurol. 2009. PMID: 19139304 Free PMC article.

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