DiMauro S - Search Results

1

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S. Kurt B, et al. Among authors: dimauro s. Arch Neurol. 2010 Feb;67(2):239-44. doi: 10.1001/archneurol.2009.332. Arch Neurol. 2010. PMID: 20142534 Free PMC article.

2

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

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

4

A novel POLG gene mutation in a patient with SANDO.

Kurt B, Naini AB, Copeland WC, Lu J, Dimauro S, Hirano M. Kurt B, et al. Among authors: dimauro s. J Exp Integr Med. 2012;2(2):10.5455/jeim.200312.cr.001. doi: 10.5455/jeim.200312.cr.001. J Exp Integr Med. 2012. PMID: 24265579 Free PMC article.

5

Atorvastatin decreases the coenzyme Q10 level in the blood of patients at risk for cardiovascular disease and stroke.

Rundek T, Naini A, Sacco R, Coates K, DiMauro S. Rundek T, et al. Among authors: dimauro s. Arch Neurol. 2004 Jun;61(6):889-92. doi: 10.1001/archneur.61.6.889. Arch Neurol. 2004. PMID: 15210526

6

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.

7

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: dimauro s. 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.

8

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.

9

Muscle phosphoglycerate mutase deficiency revisited.

Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S. Naini A, et al. Among authors: dimauro s. Arch Neurol. 2009 Mar;66(3):394-8. doi: 10.1001/archneurol.2008.584. Arch Neurol. 2009. PMID: 19273759

10

A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO).

Berardo A, Coku J, Kurt B, DiMauro S, Hirano M. Berardo A, et al. Among authors: dimauro s. Neuromuscul Disord. 2010 Mar;20(3):204-6. doi: 10.1016/j.nmd.2010.01.006. Epub 2010 Feb 10. Neuromuscul Disord. 2010. PMID: 20149659 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

735 results

Search Page